About BARD1
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
BARD1 c.722C>G, p.(Ser241Cys)
Classification
Benign
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is benign. Select a step to read what it means.
Benign.A benign classification under the recorded framework.
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: 0
Benign evidence criteria: 4
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 4
BA1Stand alone
BA1 · stand alone
gnomAD v4.1 reports an East Asian allele frequency of 2.11% (943/44,660 alleles) with 19 homozygotes, and a grpmax filtering allele frequency of 2.0%. These exceed the 1% BA1 threshold, establishing this variant as a common polymorphism incompatible with a highly penetrant Mendelian disease.
BS1Strong
BS1 · strong
gnomAD v4.1 grpmax filtering allele frequency of 2.0% and East Asian allele frequency of 2.11% far exceed the 0.3% BS1 threshold. gnomAD v2.1 grpmax FAF of 0.12% is below 0.3% but superseded by the larger v4.1 dataset.
BP4Supporting
BP4 · supporting
Multiple lines of computational evidence suggest no significant impact on the gene product. REVEL score is 0.312 (below pathogenic threshold), BayesDel score is -0.180 (benign range), and SpliceAI max delta score is 0.19 (no predicted splicing impact). Convergent benign predictions from independent in silico tools meet BP4 at supporting level.
BP6Supporting
BP6 · supporting
ClinVar reports this variant as Benign by consensus of 9 clinical laboratories and Likely benign by 6 additional laboratories (ClinVar Variation ID 136497). The aggregate classification from multiple clinical testing laboratories is Benign, meeting BP6 at supporting level.
Recorded classification: Benign
gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: BA1 stand-alone benign, BS1 strong, BP4 supporting, BP6 supporting; combination = 1 stand-alone benign + 1 strong benign + 2 supporting benign, which maps to Benign.
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
951 / 1,576,586 alleles
gnomAD v4.1: 951 / 1,576,586 alleles. Recorded AF 0.000603202. Recorded homozygote count 19.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.000134099; MAF= 0.01341%, 29/216258 alleles, homozygotes = 0) and has highest observed frequency in the East Asian population (AF= 0.00168229; MAF= 0.16823%, 28/16644 alleles, homozygotes = 0); grpmax FAF= 0.00119534.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.00016286644951140066, 3/18420 alleles, homozygotes = 0).
SpliceAI score
0.190 maximum delta
Recorded SpliceAI maximum delta score: 0.190. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
15 reported laboratory submissions
9 Benign · 6 Likely benign.
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
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
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.
29 criteria with recorded statuses: 4 met · 19 not met · 0 not assessed · 6 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
This variant is present in gnomAD v4.1 at an East Asian allele frequency of 2.11% (943/44,660 alleles) with 19 homozygotes and a grpmax filtering allele frequency of 2.0%, exceeding the 1% BA1 stand-alone benign threshold and establishing it as a common polymorphism incompatible with a highly penetrant Mendelian disorder.
The variant is classified as Benign in ClinVar (Variation ID 136497) with consensus from 9 clinical testing laboratories reporting Benign and 6 reporting Likely benign.
Multiple in silico predictors are consistent with a benign effect: REVEL score 0.312, BayesDel score -0.180, and SpliceAI maximum delta score 0.19 indicate no significant impact on protein function or splicing.
The variant was listed among 11 BARD1 nsSNPs predicted as 'not tolerated' by SIFT (TI=0.04) in an in silico screening study (PMID:23056176), but was not classified as damaging by PolyPhen and was not among the four SNPs identified as deleterious by both methods. This in silico analysis does not alter the benign classification.
No variant-specific functional studies, de novo reports, or segregation data were identified. The variant has not been reported as pathogenic by any reputable source.
Final classification: Benign. BA1 (stand-alone benign) is met. BS1 (strong benign) and BP4, BP6 (supporting benign) provide additional support. No pathogenic criteria are met.
No criteria match.
Met · 4
BA1 Stand alonegnomAD v4.1 reports an East Asian allele frequency of 2.11% (943/44,660 alleles) with 19 homozygotes, and a grpmax filtering allele frequency of 2.0%. These exceed the 1% BA1 threshold, establishing this variant as a common polymorphism incompatible with a highly penetrant Mendelian disease. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1: EAS AF 2.11% (943/44
- 660
- 19 homozygotes)
- grpmax FAF 2.0%. Exceeds 1% BA1 threshold.
Sources
BS1 StronggnomAD v4.1 grpmax filtering allele frequency of 2.0% and East Asian allele frequency of 2.11% far exceed the 0.3% BS1 threshold. gnomAD v2.1 grpmax FAF of 0.12% is below 0.3% but superseded by the larger v4.1 dataset. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1 grpmax FAF 2.0% and EAS AF 2.11% exceed 0.3% BS1 threshold.
Sources
BP4 SupportingMultiple lines of computational evidence suggest no significant impact on the gene product. REVEL score is 0.312 (below pathogenic threshold), BayesDel score is -0.180 (benign range), and SpliceAI max delta score is 0.19 (no predicted splicing impact). Convergent benign predictions from independent in silico tools meet BP4 at supporting level. Details ▾Hide ▴
Evidence considered
- REVEL 0.312
- BayesDel -0.180
- SpliceAI max delta 0.19. Three independent computational methods consistently predict no significant deleterious effect.
Sources
BP6 SupportingClinVar reports this variant as Benign by consensus of 9 clinical laboratories and Likely benign by 6 additional laboratories (ClinVar Variation ID 136497). The aggregate classification from multiple clinical testing laboratories is Benign, meeting BP6 at supporting level. Details ▾Hide ▴
Evidence considered
- ClinVar: Benign (9 labs)
- Likely benign (6 labs). Aggregate classification Benign. ClinVar ID 136497.
Sources
Not met · 19 · evaluated, threshold not reached
PS1 No previously established pathogenic variant resulting in the same amino acid change (p.Ser241Cys) via a different nucleotide change was identified. The exact variant is classified as Benign in ClinVar. Details ▾Hide ▴
Evidence considered
- ClinVar reports this variant as Benign/Likely benign (ID 136497)
- no pathogenic comparator at the same residue was found.
Sources
clinvar ↗pm5_candidates
PS2 No de novo occurrence of this variant was reported in any reviewed source. PS2 requires confirmation of de novo status with both maternity and paternity confirmed. Details ▾Hide ▴
Evidence considered
- No de novo evidence identified in ClinVar submissions
- literature
- or curated databases.
Still missing
- No de novo testing was performed for this case.
PS3 No well-established in vitro or in vivo functional studies were identified for this variant. The only relevant publication (PMID:23056176) is a purely in silico bioinformatics analysis using SIFT and PolyPhen; it does not include experimental functional assays. OncoKB found no variant-specific reviewed functional evidence. Details ▾Hide ▴
Evidence considered
- PMID:23056176 is an in silico prediction study only
- no functional assay was performed on this variant. OncoKB reports no variant-specific functional evidence.
Still missing
- No experimental functional data exist for this variant.
Sources
PS4 The variant is observed at high frequency in population databases (gnomAD v4.1 East Asian AF 2.11%, 19 homozygotes), indicating it is a common polymorphism. No statistically significant enrichment in cases versus controls can be demonstrated. Observed in breast cancer cohorts (PMID:14550946 Japanese breast cancer study) but population frequency precludes case-control significance. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1 East Asian AF 2.11% with 19 homozygotes
- gnomAD v2.1 overall AF 0.013% concentrated in East Asians. Population frequency is incompatible with a disease-causing variant.
Sources
PM1 The variant does not lie in a statistically significant mutational hotspot. While BARD1 has well-established functional domains (RING, ankyrin repeats, BRCT), residue 241 is not in a critical domain with absence of benign variation. The variant has substantial benign population variation (2.1% EAS AF, 19 homozygotes). Details ▾Hide ▴
Evidence considered
- Hotspot analysis: residue not statistically significant. gnomAD v4.1 shows 19 homozygotes
- confirming the region tolerates benign variation.
Sources
PM2 gnomAD grpmax filtering allele frequency of 0.12% (v2.1) and 2.0% (v4.1) exceeds the 0.1% threshold for PM2. The variant is present at appreciable frequency in population databases, particularly in East Asian populations. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1 grpmax FAF 0.12% (EAS AF 0.168%
- 28/16
- 644)
- gnomAD v4.1 grpmax FAF 2.0% (EAS AF 2.11%
- 943/44
- 660
- 19 homozygotes). Both exceed the 0.1% PM2 cutoff.
Sources
PM6 No de novo report was identified for this variant. PM6 requires a de novo observation with maternity and paternity confirmation. Details ▾Hide ▴
Evidence considered
- No de novo evidence for this variant was found in any reviewed source.
Still missing
- No de novo data available.
PP1 No segregation data were identified for this variant. PP1 requires cosegregation with disease in multiple affected family members. Details ▾Hide ▴
Evidence considered
- No family segregation studies were available.
Still missing
- No segregation data available.
PP2 PP2 applies to genes with a low rate of benign missense variation where missense variants are a common disease mechanism. BARD1 has both truncating and missense pathogenic variants, but benign missense variation is also common. The high population frequency of this variant (2.1% EAS) indicates benign missense variation occurs in BARD1. Details ▾Hide ▴
Evidence considered
- PP2 is not met because BARD1 tolerates benign missense variation as demonstrated by 19 homozygotes for this variant in gnomAD v4.1.
Sources
PP3 Multiple lines of computational evidence do not support a deleterious effect. REVEL score is 0.312 (below typical 0.5 pathogenic threshold), BayesDel score is -0.180 (benign range), and SpliceAI max delta is 0.19 (no predicted splicing impact). Although SIFT in PMID:23056176 predicted this variant as 'not tolerated' (TI=0.04), this is not corroborated by other computational tools and PolyPhen did not classify it as damaging. Details ▾Hide ▴
Evidence considered
- REVEL 0.312 (benign-leaning)
- BayesDel -0.180 (benign)
- SpliceAI max delta 0.19 (no splice effect). SIFT 'not tolerated' (PMID:23056176) is an outlier not supported by other methods.
Sources
PP4 No specific patient phenotype or family history consistent with BARD1-related hereditary breast and ovarian cancer syndrome was provided for assessment. PP4 requires a phenotype highly specific for a single genetic etiology. Details ▾Hide ▴
Evidence considered
- No patient-specific phenotype data were available for assessment.
Still missing
- Patient phenotype data not provided.
PP5 No reputable source reports this variant as pathogenic. ClinVar aggregate classification is Benign (ID 136497). No expert panel has classified this variant as pathogenic. Details ▾Hide ▴
Evidence considered
- ClinVar reports Benign (9 labs) and Likely benign (6 labs). No expert panel pathogenic classification exists.
Sources
BS2 BS2 requires observation in a healthy adult individual for a disorder with full penetrance expected at an early age. While 19 homozygotes are present in gnomAD v4.1, gnomAD is a population database without individual phenotype data. BARD1-associated cancer predisposition has adult onset and variable penetrance; gnomAD homozygote counts alone cannot confirm healthy adult status with expected early-onset penetrance. Details ▾Hide ▴
Evidence considered
- 19 homozygotes in gnomAD v4.1 suggest the variant is tolerated in the homozygous state
- but gnomAD lacks individual phenotype data required for BS2.
Still missing
- No phenotype-confirmed healthy adult carriers identified.
Sources
BS3 No well-established in vitro or in vivo functional studies demonstrating a neutral effect were identified. In silico predictions (REVEL, BayesDel, SpliceAI) suggest a benign effect, but BS3 requires experimental functional evidence, not computational predictions alone. Details ▾Hide ▴
Evidence considered
- Computational predictions suggest benign effect but do not constitute the well-established functional studies required for BS3.
Still missing
- No experimental functional studies performed on this variant.
Sources
BS4 No segregation data were available to assess lack of cosegregation with disease in affected family members. Details ▾Hide ▴
Evidence considered
- No family studies or segregation data available.
Still missing
- No segregation data available.
BP1 BP1 applies to missense variants in genes for which primarily truncating variants are known to cause disease. While BARD1 loss-of-function variants are established in hereditary breast and ovarian cancer, pathogenic missense variants in BARD1 have also been reported; the gene does not meet the strict BP1 criterion of 'primarily truncating variants cause disease.' Details ▾Hide ▴
Evidence considered
- BARD1 disease mechanism includes both truncating and missense pathogenic variants
- BP1 not applicable.
BP2 No evidence was found of this variant occurring in trans with a known pathogenic BARD1 variant in a fully penetrant dominant disorder. Details ▾Hide ▴
Evidence considered
- No trans observation with a pathogenic BARD1 variant identified.
Still missing
- No data on phase with other BARD1 variants.
BP5 No alternate molecular basis for disease was identified in a case harboring this variant. BP5 requires observation of the variant in a case with a confirmed alternative cause of disease. Details ▾Hide ▴
Evidence considered
- No data on alternate molecular diagnoses in carriers of this variant.
Still missing
- No alternate molecular basis data available.
PS5 No reputable source reports this variant as pathogenic. ClinVar classifies this variant as Benign (9 clinical laboratories) and Likely benign (6 clinical laboratories). Details ▾Hide ▴
Not applicable · 6· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis is a missense substitution (c.722C>G, p.Ser241Cys) in exon 4 and does not fall into the ClinGen SVI PVS1 null-variant buckets of nonsense, frameshift, or canonical ±1,2 splice consensus variants. Generic PVS1 framework does not apply. Details ▾Hide ▴
Evidence considered
- Variant is a missense substitution (p.Ser241Cys)
- not eligible for PVS1 under PMC6185798 criteria.
Sources
PM3 N/ADetected in trans with a pathogenic variant for a recessive disorder. BARD1-associated disease has autosomal dominant inheritance. Details ▾Hide ▴
No further detail was recorded.
PM4 N/AProtein length changes due to in-frame deletions/insertions or stop-loss. Variant is a missense substitution. Details ▾Hide ▴
No further detail was recorded.
PM5 N/APM5 requires a pathogenic missense variant at the same amino acid residue. No same-residue pathogenic comparator variants were identified in ClinVar; PM5 candidate harvesting was inconclusive. Details ▾Hide ▴
Evidence considered
- pm5_mode unknown
- no same-residue pathogenic comparators identified.
Sources
pm5_candidates
BP3 N/AIn-frame deletions/insertions in a repetitive region without a known function. Variant is a missense substitution. Details ▾Hide ▴
No further detail was recorded.
BP7 N/ABP7 applies to synonymous variants with no predicted splice impact. This is a missense substitution (c.722C>G, p.Ser241Cys) and does not qualify. Details ▾Hide ▴
Evidence considered
- Variant type is missense
- not synonymous
- BP7 is intrinsically not applicable.
Identifiers
- Gene
- BARD1
- Transcript
- NM_000465.4
- Coding (HGVS c.)
- NM_000465.4:c.722C>G
- Protein (HGVS p.)
- NP_000456.2:p.(Ser241Cys)
- GRCh38
- chr2:214781152 G>C
- GRCh37
- chr2:215645876 G>C
- ClinVar
- 136497
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
951 / 1,576,586 alleles
AF 0.000603 · 19 homozygotes · FAF 0.02
gnomAD v2.1
29 / 216,258 alleles
AF 0.000134 · 0 homozygotes · FAF 0.0012
gnomAD-Canada v1.0
Allele count data not recorded
By genetic ancestry
gnomAD v4.1
AF 0.0006 · 951 / 1,576,586 alleles · 19 hom · FAF 0.02
| East Asian943 / 44,660 | 0.02119 hom |
| Remaining individuals8 / 60,750 | 0.00013 |
0 alternate alleles recorded in 8 other groups: Admixed American, European (Finnish), Amish, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American, European (non-Finnish).
gnomAD v2.1
AF 0.00013 · 29 / 216,258 alleles · 0 hom · FAF 0.0012
| East Asian28 / 16,644 | 0.0017 |
| Remaining individuals1 / 5,054 | 0.0002 |
0 alternate alleles recorded in 6 other groups: African/African American, Admixed American, Ashkenazi Jewish, European (Finnish), European (non-Finnish), South Asian.
gnomAD-Canada
AF not recorded · ? / ? alleles
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 0.000603202; MAF= 0.06032%, 951/1576586 alleles, homozygotes = 19) and has highest observed frequency in the East Asian population (AF= 0.0211151; MAF= 2.11151%, 943/44660 alleles, homozygotes = 19); grpmax FAF= 0.0199964.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.000134099; MAF= 0.01341%, 29/216258 alleles, homozygotes = 0) and has highest observed frequency in the East Asian population (AF= 0.00168229; MAF= 0.16823%, 28/16644 alleles, homozygotes = 0); grpmax FAF= 0.00119534.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.00016286644951140066, 3/18420 alleles, homozygotes = 0).
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.312
- BayesDel
- -0.180
How the predictions were used
BP4 SupportingMultiple lines of computational evidence suggest no significant impact on the gene product. REVEL score is 0.312 (below pathogenic threshold), BayesDel score is -0.180 (benign range), and SpliceAI max delta score is 0.19 (no predicted splicing impact). Convergent benign predictions from independent in silico tools meet BP4 at supporting level. Details ▾Hide ▴
Evidence considered
- REVEL 0.312
- BayesDel -0.180
- SpliceAI max delta 0.19. Three independent computational methods consistently predict no significant deleterious effect.
Sources
PP3 Multiple lines of computational evidence do not support a deleterious effect. REVEL score is 0.312 (below typical 0.5 pathogenic threshold), BayesDel score is -0.180 (benign range), and SpliceAI max delta is 0.19 (no predicted splicing impact). Although SIFT in PMID:23056176 predicted this variant as 'not tolerated' (TI=0.04), this is not corroborated by other computational tools and PolyPhen did not classify it as damaging. Details ▾Hide ▴
Evidence considered
- REVEL 0.312 (benign-leaning)
- BayesDel -0.180 (benign)
- SpliceAI max delta 0.19 (no splice effect). SIFT 'not tolerated' (PMID:23056176) is an outlier not supported by other methods.
Sources
BP7 N/ABP7 applies to synonymous variants with no predicted splice impact. This is a missense substitution (c.722C>G, p.Ser241Cys) and does not qualify. Details ▾Hide ▴
Evidence considered
- Variant type is missense
- not synonymous
- BP7 is intrinsically not applicable.
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.19). REVEL score = 0.312. BayesDel score = -0.180224.
9 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata.
Recorded publications
-
PMID 23056176 ↗Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.Alshatwi AA et al. · 2012rs3738885 (c.722C>G, p.S241C) was listed among 11 BARD1 nsSNPs predicted as 'not tolerated' by SIFT (TI=0.04) in Table 1. This variant was not predicted as damaging by PolyPhen and was not among the four SNPs (rs4986841, rs111367604, rs13389423, rs139785364) identified as deleterious by both SIFT and PolyPhen.Names this variant
Quoted passage
rs3738885 C/G S241C 0.04
Table 1 (SIFT Not Tolerated list); not present in Table 2 (PolyPhen Damaging list).
-
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.This is the ACMG/AMP 2015 standards and guidelines for variant interpretation. It provides the framework for criteria assessment but does not mention the specific variant NM_000465.4:c.722C>G or BARD1 gene.Does not name this variant
-
PMID 26467025 ↗A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.This paper describes a standardized DNA variant scoring system and does not mention the specific variant NM_000465.4:c.722C>G or the BARD1 gene.Does not name this variant
-
PMID 26692440 ↗Clinicopathologic Features and Germline Sequence Variants in Young Patients (≤40 Years Old) With Pancreatic Ductal Adenocarcinoma.No paper-specific finding is recorded.
-
PMID 14550946 ↗Mutational analysis of BARD1 in familial breast cancer patients in Japan.Ishitobi M et al. · 2003No paper-specific finding is recorded.
-
PMID 24366402 ↗Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.No paper-specific finding is recorded.
-
PMID 24432435 ↗PMID 24432435No paper-specific finding is recorded.
-
PMID 26389210 ↗Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version.No paper-specific finding is recorded.
-
PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.No paper-specific finding is recorded.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
951 / 1,576,586 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.190
Open source ↗
ClinVar
9 Benign · 6 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/136497/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/2-215645876-G-C?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr2-214781152-G-C?dataset=gn…
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/2-214781152-G-C
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000465.4%3Ac.722C…
- OncoKB ↗www.oncokb.org/gene/BARD1/S241C
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=BARD1+c.722C%3EG
- 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= 0.000603202; MAF= 0.06032%, 951/1576586 alleles, homozygotes = 19) and has highest observed frequency in the East Asian population (AF= 0.0211151; MAF= 2.11151%, 943/44660 alleles, homozygotes = 19); grpmax FAF= 0.0199964.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.000134099; MAF= 0.01341%, 29/216258 alleles, homozygotes = 0) and has highest observed frequency in the East Asian population (AF= 0.00168229; MAF= 0.16823%, 28/16644 alleles, homozygotes = 0); grpmax FAF= 0.00119534.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.00016286644951140066, 3/18420 alleles, homozygotes = 0).
ClinVar
This variant has been reported in ClinVar as Benign (9 clinical laboratories) and as Likely benign (6 clinical laboratories). (ClinVarID = 136497)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.19). REVEL score = 0.312. BayesDel score = -0.180224.
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 not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.