About BARD1
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
BARD1 c.568G>A, p.(Asp190Asn)
Classification
Uncertain significance
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is uncertain. Select a step to read what it means.
Uncertain.The recorded classification is uncertain significance.
In plain language
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.
LYFE Sciences is an AI system, and it can make mistakes.
Criteria may be applied incorrectly, sources may be misread, and a
confident-looking classification can still be wrong.
Double-check every criterion and its underlying evidence
before relying on any call.
01The reasoning
How it was classified
The recorded framework is Not recorded. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.
Recorded applied criteria
The applied criteria and their strengths are shown as assessed under the stated framework.
Pathogenic evidence criteria: 1
Benign evidence criteria: 1
Pathogenic criteria applied · 1
PM2Supporting
PM2 · supporting
This variant is present at extremely low frequency in population databases. gnomAD v2.1: 17/280,222 alleles (AF = 0.00607%); gnomAD v4.1: 196/1,611,434 alleles (AF = 0.01216%). Both are well below the 0.1% threshold for PM2 supporting. No homozygotes observed. Highest subpopulation frequency is European (non-Finnish): 0.0125% (v2.1) and 0.0155% (v4.1).
Benign criteria applied · 1
BP4Supporting
BP4 · supporting
Multiple lines of computational evidence support a benign interpretation. REVEL score is 0.053 (strongly predicts benign), BayesDel score is -0.567 (predicts benign), and SpliceAI max delta is 0.11 (no predicted splicing impact). All available in silico tools agree on a lack of deleterious effect.
Recorded classification: Uncertain significance
gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: PM2 supporting, BP4 supporting; combination = 1 supporting + 1 supporting benign, which maps to VUS.
02The sources
Evidence at a glance
Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.
gnomAD v4.1
gnomAD v2.1
Population frequency
196 / 1,611,434 alleles
gnomAD v4.1: 196 / 1,611,434 alleles. Recorded AF 0.000121631. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 6.06662e-05; MAF= 0.00607%, 17/280222 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 0.000124789; MAF= 0.01248%, 16/128216 alleles, homozygotes = 0); grpmax FAF= 8.165e-05.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0003801042571676803, 7/18416 alleles, homozygotes = 0).
SpliceAI score
0.110 maximum delta
Recorded SpliceAI maximum delta score: 0.110. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
17 reported laboratory submissions
12 Uncertain significance · 5 Likely benign. ClinVar API review status: criteria provided, conflicting classifications.
Context only
ClinVar ↗
Functional evidence
Statement recorded
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. BARD1, a tumor suppressor involved in the DNA damage response, is altered by mutation in breast and ovarian cancers.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
1 recorded samples
This variant has previously been reported in somatic cancers (COSMIC; COSV105028599, n = 1 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under Not recorded, with the data and sources behind each one.
26 criteria with recorded statuses: 2 met · 22 not met · 0 not assessed · 2 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
NM_000465.4:c.568G>A (p.Asp190Asn) is a missense variant in exon 4 of BARD1.
This variant is present at extremely low frequency in population databases: gnomAD v2.1 AF = 0.00607% (17/280,222 alleles) and gnomAD v4.1 AF = 0.01216% (196/1,611,434 alleles), meeting PM2 at supporting strength.
Multiple lines of computational evidence support a benign interpretation: REVEL score 0.053, BayesDel score -0.567, and SpliceAI max delta 0.11, meeting BP4 at supporting strength.
No variant-specific functional data exist. Adamovich et al. 2019 (PMID:30925164) tested 76 BARD1 missense variants in an HDR assay but did not include p.Asp190Asn. All 22 variants in the linker region between the RING and ankyrin domains were found to be HDR-functional.
This variant has been reported in ClinVar as Uncertain significance (12 clinical laboratories) and Likely benign (5 clinical laboratories), with review status 'criteria provided, single submitter' (1-star). No expert panel has evaluated this variant.
PVS1 is not applicable as this is a missense variant. PS1-PS5, PM1, PM5-PM6, PP1-PP5, BA1, BS1-BS4, BP1-BP2, BP5-BP6 are not met. BP7 is not applicable.
The net evidence balance is PM2 (supporting pathogenic) + BP4 (supporting benign), resulting in a classification of Variant of Uncertain Significance.
No criteria match.
Met · 2
PM2 SupportingThis variant is present at extremely low frequency in population databases. gnomAD v2.1: 17/280,222 alleles (AF = 0.00607%); gnomAD v4.1: 196/1,611,434 alleles (AF = 0.01216%). Both are well below the 0.1% threshold for PM2 supporting. No homozygotes observed. Highest subpopulation frequency is European (non-Finnish): 0.0125% (v2.1) and 0.0155% (v4.1). Details ▾Hide ▴
Evidence considered
- gnomAD v2.1 AF = 0.00607% (<0.1%)
- v4.1 AF = 0.01216% (<0.1%)
- absent from gnomAD-Canada.
Sources
BP4 SupportingMultiple lines of computational evidence support a benign interpretation. REVEL score is 0.053 (strongly predicts benign), BayesDel score is -0.567 (predicts benign), and SpliceAI max delta is 0.11 (no predicted splicing impact). All available in silico tools agree on a lack of deleterious effect. Details ▾Hide ▴
Evidence considered
- REVEL 0.053 (benign)
- BayesDel -0.567 (benign)
- SpliceAI 0.11 (no splice impact). All computational tools predict no deleterious effect.
Sources
Not met · 22 · evaluated, threshold not reached
PS1 No known pathogenic missense variant with the same amino acid change (p.Asp190) has been established in ClinVar or the literature. PS1 requires a previously classified pathogenic variant at the same residue with the same amino acid change. Details ▾Hide ▴
Evidence considered
- PM5 candidate search found no same-residue pathogenic comparators at position 190.
Sources
clinvar ↗pm5_candidates
PS2 No de novo data are available for this variant. PS2 requires confirmed de novo occurrence with both maternity and paternity confirmed. Details ▾Hide ▴
Evidence considered
- No de novo reports identified in ClinVar submissions or literature.
Still missing
- No trio or parent-of-origin data available for this variant.
PS3 No variant-specific functional data exist for p.Asp190Asn. The most comprehensive functional study of BARD1 missense variants (Adamovich et al. 2019, PMID:30925164) tested 76 variants in an HDR assay but did not include D190N. The variant resides in the linker region between the RING and ankyrin repeat domains, where all 22 tested variants were HDR-functional. However, PS3 requires variant-level or systematic range data, and domain-level inference from sparse testing does not satisfy PS3. Details ▾Hide ▴
Evidence considered
- PMID 30925164 tested 76 BARD1 missense variants spanning all domains
- D190N was not among them. All 22 variants in the RING-to-ankyrin linker region were HDR-functional. No other functional study includes this variant.
Still missing
- No direct functional assay data for NM_000465.4:c.568G>A (p.Asp190Asn).
Sources
PS4 No case-control data are available demonstrating enrichment of this variant in affected individuals versus controls. PS4 requires statistically significant enrichment in affected individuals. Details ▾Hide ▴
Evidence considered
- No case-control enrichment data identified for this variant.
Still missing
- No case-control studies include this specific variant.
PM1 p.Asp190 is located in the linker region between the BARD1 RING domain (aa ~46-90) and the ankyrin repeat domain (aa ~427+), not within a characterized critical functional domain. Per Adamovich et al. 2019 (PMID:30925164), all 22 missense variants tested in this inter-domain region were HDR-functional, indicating no critical DNA repair function associated with this region. Residue-specific hotspot analysis at cancerhotspots.org is also negative. Details ▾Hide ▴
Evidence considered
- Not in a statistically significant hotspot. Resides in the RING-to-ankyrin linker region where all tested variants were HDR-functional (PMID:30925164).
Sources
PM5 No pathogenic missense variant at the same residue (p.Asp190) with a different amino acid change has been established. The PM5 candidate search found zero same-residue comparator variants in ClinVar. Details ▾Hide ▴
Evidence considered
- PM5 candidate harvest returned 0 same-residue candidates at position 190.
Sources
pm5_candidatesclinvar ↗
PM6 No de novo data are available for this variant. PM6 requires a de novo observation with both maternity and paternity confirmed, without confirmation of the variant as a de novo event. Details ▾Hide ▴
Evidence considered
- No de novo reports identified for this variant.
Still missing
- No trio data available.
PP1 No cosegregation data are available for this variant. PP1 requires cosegregation with disease in multiple affected family members. Details ▾Hide ▴
Evidence considered
- No family segregation data identified in the literature or ClinVar submissions.
Still missing
- No family studies include this variant.
PP2 BARD1 has known pathogenic missense variants (e.g., in RING domain: L44R, C53W, C71Y; in BRCT domain: T598I, S660R, G698D, P707S, G753D per PMID:30925164), indicating that missense variation is an established disease mechanism for this gene. PP2 is reserved for genes where missense variants are NOT a common mechanism of disease (low rate of benign missense variation). BARD1 does not meet this criterion. Details ▾Hide ▴
Evidence considered
- BARD1 has multiple established pathogenic missense variants
- missense is a recognized disease mechanism.
Sources
PP3 Multiple lines of computational evidence support a benign interpretation. REVEL score is 0.053 (strongly benign; threshold for pathogenic is typically >0.5). BayesDel score is -0.567 (benign; negative scores predict benign). SpliceAI max delta is 0.11 (no predicted splicing impact). No in silico tool predicts a deleterious effect. Details ▾Hide ▴
Evidence considered
- REVEL 0.053 (benign)
- BayesDel -0.567 (benign)
- SpliceAI 0.11 (no splice impact).
Sources
PP4 No patient-specific phenotype or family history data are available for this variant. PP4 requires that the patient's phenotype or family history is highly specific for a disease with a single genetic etiology. Details ▾Hide ▴
Evidence considered
- No patient phenotype data available for adjudication.
Still missing
- No individual case data with phenotype information.
PP5 ClinVar classification is Uncertain significance (12 clinical laboratories) and Likely benign (5 clinical laboratories), with review status 'criteria provided, single submitter' (1-star). No expert panel (3-star) has evaluated this variant. PP5 requires a 3-star expert panel classification as pathogenic to be applied at supporting level per established framework rules. Details ▾Hide ▴
Evidence considered
- ClinVar: VUS/LB at 1-star review level. No 3-star expert panel classification.
Sources
BA1 The maximum population allele frequency of this variant is 0.0155% (gnomAD v4.1 European non-Finnish), far below the 1% threshold required for BA1 (stand-alone benign). Details ▾Hide ▴
BS1 The maximum population allele frequency of this variant is 0.0155% (gnomAD v4.1 European non-Finnish), below the 0.3% threshold required for BS1 (strong benign) under the generic ACMG framework. Details ▾Hide ▴
Evidence considered
- gnomAD max subpopulation AF = 0.0155%
- below 0.3% threshold.
Sources
BS2 No data are available regarding observation of this variant in healthy adult individuals at significant frequency. gnomAD counts (17 in v2.1, 196 in v4.1) are low and represent population cohorts, not specifically documented healthy controls. Details ▾Hide ▴
Evidence considered
- No dedicated healthy control data for this variant.
Still missing
- No case-control observation data in healthy individuals.
BS3 No variant-specific well-established functional studies demonstrate no damaging effect. While the region between the RING and ankyrin domains showed HDR proficiency for all 22 tested variants (PMID:30925164), this is domain-level inference, not variant-level functional data. BS3 requires well-established functional studies showing no damaging effect for the specific variant. Details ▾Hide ▴
Evidence considered
- All 22 variants in the RING-to-ankyrin linker region were HDR-functional (PMID:30925164)
- but D190N was not directly tested.
Still missing
- No direct functional assay of D190N.
Sources
BS4 No segregation data are available for this variant. BS4 requires lack of segregation with disease in affected family members. Details ▾Hide ▴
Evidence considered
- No family segregation data available.
Still missing
- No family studies include this variant.
BP1 BARD1 is a gene for which both missense and truncating variants are known to cause disease. Multiple missense variants in the RING domain (L44R, C53W, C71Y) and BRCT domain (T598I, S660R, G698D, P707S, G753D) have been shown to be HDR-deficient and are considered pathogenic (PMID:30925164). BP1 applies only when primarily truncating variants cause disease. Details ▾Hide ▴
Evidence considered
- BARD1 has known pathogenic missense variants in RING and BRCT domains.
Sources
BP2 No data are available regarding observation of this variant in trans with a pathogenic variant for BARD1, which is associated with autosomal dominant inheritance. BP2 requires observation in trans with a pathogenic variant in a fully penetrant dominant disorder. Details ▾Hide ▴
Evidence considered
- No trans-configuration data available.
Still missing
- No data on co-occurrence with other BARD1 pathogenic variants.
BP5 No data are available identifying an alternate molecular basis for disease in a case carrying this variant. BP5 requires that the variant is found in a case with an established alternative genetic cause of the phenotype. Details ▾Hide ▴
Evidence considered
- No cases with alternate molecular diagnosis identified.
Still missing
- No co-occurrence data with other pathogenic variants.
BP6 While 5 clinical laboratories have classified this variant as Likely benign in ClinVar, the overall review status is 'criteria provided, single submitter' (1-star). BP6 requires a 3-star expert panel classification as benign to be applied at supporting level per established framework rules. Details ▾Hide ▴
Evidence considered
- ClinVar: 5 labs report Likely benign
- but overall 1-star review status. No 3-star expert panel classification.
Sources
PS5 No reputable source has reported this variant as pathogenic. ClinVar classification is Uncertain significance (12 laboratories) and Likely benign (5 laboratories), with review status 'criteria provided, single submitter' (1-star). No expert panel has classified this variant as pathogenic. Details ▾Hide ▴
Evidence considered
- ClinVar: VUS (12 labs) and Likely benign (5 labs)
- 1-star review status. No expert panel classification.
Sources
Not applicable · 2· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/APVS1 is not applicable. This is a missense variant (NM_000465.4:c.568G>A, p.Asp190Asn) in BARD1 exon 4. PVS1 applies only to null variants (nonsense, frameshift, canonical ±1,2 splice sites). The pvs1_variant_assessment confirms variant_bucket='other' and apply_generic_pvs1_framework=false. Details ▾Hide ▴
Evidence considered
- Missense substitution
- not a null variant per ClinGen SVI PVS1 framework (PMC6185798).
Sources
pvs1_generic_framework ↗pvs1_variant_assessment
BP7 N/ABP7 applies only to synonymous (silent) variants with no predicted splice impact. NM_000465.4:c.568G>A is a missense variant (p.Asp190Asn), not a synonymous variant. Details ▾Hide ▴
Evidence considered
- Missense variant
- not synonymous.
Identifiers
- Gene
- BARD1
- Transcript
- NM_000465.4
- Coding (HGVS c.)
- NM_000465.4:c.568G>A
- Protein (HGVS p.)
- NP_000456.2:p.(Asp190Asn)
- GRCh38
- chr2:214781306 C>T
- GRCh37
- chr2:215646030 C>T
- ClinVar
- 142184
- COSMIC
- COSV105028599
Gene diagram
Every interpreted variant in BARD1, mapped onto the exon structure of NM_000465.4. Select a row to find it on the plot.
BARD1NM_000465.4
Fetching transcript structure from UCSC…
Exons
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Transcript span
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Strand
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Variants mapped
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Source
UCSC ncbiRefSeqCurated
All variants in BARD1
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Select a row to find it on the plot; use the link to open its page.
| Protein | Location | Classification | Link |
|---|
gnomAD v4.1
196 / 1,611,434 alleles
AF 0.000122 · 0 homozygotes · FAF 0.000137
gnomAD v2.1
17 / 280,222 alleles
AF 6.07e-05 · 0 homozygotes · FAF 8.16e-05
gnomAD-Canada v1.0
Allele count data not recorded
By genetic ancestry
gnomAD v4.1
AF 0.00012 · 196 / 1,611,434 alleles · 0 hom · FAF 0.00014
| European (non-Finnish)183 / 1,179,486 | 0.00016 |
| Admixed American7 / 59,660 | 0.00012 |
| African/African American5 / 74,772 | 6.7e-05 |
| Remaining individuals1 / 62,390 | 1.6e-05 |
0 alternate alleles recorded in 6 other groups: European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish.
gnomAD v2.1
AF 6.1e-05 · 17 / 280,222 alleles · 0 hom · FAF 8.2e-05
| European (non-Finnish)16 / 128,216 | 0.00012 |
| Admixed American1 / 35,040 | 2.9e-05 |
0 alternate alleles recorded in 6 other groups: African/African American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals, South Asian.
gnomAD-Canada
AF not recorded · ? / ? alleles
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 0.000121631; MAF= 0.01216%, 196/1611434 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 0.000155152; MAF= 0.01552%, 183/1179486 alleles, homozygotes = 0); grpmax FAF= 0.00013673.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 6.06662e-05; MAF= 0.00607%, 17/280222 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 0.000124789; MAF= 0.01248%, 16/128216 alleles, homozygotes = 0); grpmax FAF= 8.165e-05.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0003801042571676803, 7/18416 alleles, homozygotes = 0).
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.053
- BayesDel
- -0.567
How the predictions were used
BP4 SupportingMultiple lines of computational evidence support a benign interpretation. REVEL score is 0.053 (strongly predicts benign), BayesDel score is -0.567 (predicts benign), and SpliceAI max delta is 0.11 (no predicted splicing impact). All available in silico tools agree on a lack of deleterious effect. Details ▾Hide ▴
Evidence considered
- REVEL 0.053 (benign)
- BayesDel -0.567 (benign)
- SpliceAI 0.11 (no splice impact). All computational tools predict no deleterious effect.
Sources
PP3 Multiple lines of computational evidence support a benign interpretation. REVEL score is 0.053 (strongly benign; threshold for pathogenic is typically >0.5). BayesDel score is -0.567 (benign; negative scores predict benign). SpliceAI max delta is 0.11 (no predicted splicing impact). No in silico tool predicts a deleterious effect. Details ▾Hide ▴
Evidence considered
- REVEL 0.053 (benign)
- BayesDel -0.567 (benign)
- SpliceAI 0.11 (no splice impact).
Sources
BP7 N/ABP7 applies only to synonymous (silent) variants with no predicted splice impact. NM_000465.4:c.568G>A is a missense variant (p.Asp190Asn), not a synonymous variant. Details ▾Hide ▴
Evidence considered
- Missense variant
- not synonymous.
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.11). REVEL score = 0.053. BayesDel score = -0.567143.
9 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata. None of the listed paper records explicitly indicates that the variant is named.
Recorded publications
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PMID 25741868 ↗Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.ACMG/AMP standards and guidelines for the interpretation of sequence variants. This is a general framework document that does not mention any specific BARD1 variants.Does not name this variant
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PMID 26467025 ↗A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Describes a standardized DNA variant scoring system for pathogenicity assessment in Mendelian disorders. Does not discuss BARD1 or mention any specific BARD1 variants.Does not name this variant
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PMID 27978560 ↗Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.Pearlman R et al. · 2017Reports prevalence of germline cancer susceptibility gene mutations among 450 patients with early-onset colorectal cancer. BARD1 was included in the 25-gene panel but no specific BARD1 variant findings are reported.Does not name this variant
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PMID 28135145 ↗Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.Yurgelun MB et al. · 2017Assessed prevalence of germline cancer susceptibility gene mutations in 1,058 unselected colorectal cancer patients. BARD1 was listed as a moderate-penetrance gene on the panel, but no specific BARD1 variants were reported.Does not name this variant
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PMID 30925164 ↗Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.Adamovich AI et al. · 2019Functional analysis of 76 BARD1 missense variants in an HDR assay. p.Asp190Asn (D190N) was not among the variants tested. All 22 tested variants in the linker region between the RING and ankyrin repeat domains were HDR-functional. Nearby R194K (residue 194) was tested and found HDR-functional. HDR-deficient variants were identified only in the ankyrin repeat, BRCT, and select RING domains.Does not name this variant
Quoted passage
the eight variants located in the RING domain, as well the 22 in the region between the RING and ankyrin repeat domains, all had HDR activity similar to wild-type.
Figure 2A; Results, paragraph on HDR assay
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PMID 34326862 ↗Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.Bhai P et al. · 2021Analysis of sequence and copy number variants in a Canadian patient cohort with familial cancer syndromes using NGS-based panel testing. BARD1 was included in the gene panel but no specific BARD1 variants are reported in the available text.Does not name this variant
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PMID 15604628 ↗Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.Practice recommendations from the National Society of Genetic Counselors for cancer genetic risk assessment and counseling. Does not discuss BARD1 or mention any specific gene variants.Does not name this variant
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PMID 24432435 ↗PMID 24432435No paper-specific finding is recorded.
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PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Sherloc refinement of the ACMG-AMP variant classification criteria. This is a methods paper that does not discuss any specific BARD1 variants.Does not name this variant
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
196 / 1,611,434 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.110
Open source ↗
ClinVar
12 Uncertain significance · 5 Likely benign
Open source ↗
COSMIC
Captured COSMIC source record
Open source ↗
Cancer hotspots
Captured Cancer Hotspots source record
Open source ↗
OncoKB
Captured OncoKB source record
Open source ↗
All source links
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/142184/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/2-215646030-C-T?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr2-214781306-C-T?dataset=gn…
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/2-214781306-C-T
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000465.4%3Ac.568G…
- OncoKB ↗www.oncokb.org/gene/BARD1/D190N
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=125499859
- Cancer hotspots ↗www.cancerhotspots.org/
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 0.000121631; MAF= 0.01216%, 196/1611434 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 0.000155152; MAF= 0.01552%, 183/1179486 alleles, homozygotes = 0); grpmax FAF= 0.00013673.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 6.06662e-05; MAF= 0.00607%, 17/280222 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 0.000124789; MAF= 0.01248%, 16/128216 alleles, homozygotes = 0); grpmax FAF= 8.165e-05.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0003801042571676803, 7/18416 alleles, homozygotes = 0).
ClinVar
This variant has been reported in ClinVar as Uncertain significance (12 clinical laboratories) and as Likely benign (5 clinical laboratories). (ClinVarID = 142184)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.11). REVEL score = 0.053. BayesDel score = -0.567143.
Functional
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. BARD1, a tumor suppressor involved in the DNA damage response, is altered by mutation in breast and ovarian cancers.
Somatic
This variant does not lie in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV105028599, n = 1 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.