0%
BARD1c.1325C>TLikely benign
Print report
Variant interpretation report

BARD1 c.1325C>T, p.(Pro442Leu)

NM_000465.4:c.1325C>T NP_000456.2:p.(Pro442Leu) View identifiers
Classification
Likely benign

Variant description:

No variant summary was recorded for this case.

Five-step scale from benign to pathogenic. This variant is likely benign. Select a step to read what it means.

Likely benign.A likely benign classification under the recorded framework.

In plain language

Gene-level background from the recorded interpretation.

About BARD1

No gene-level summary was recorded for this case.

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: 2
Pathogenic criteria applied · 1
PM2Supporting
PM2 · supporting

This variant is present at extremely low frequency in population databases. gnomAD v2.1: 3/251,198 alleles (AF=0.00119%); gnomAD v4.1: 38/1,612,910 alleles (AF=0.00236%); absent from gnomAD-Canada. All allele frequencies are well below the 0.1% PM2 threshold. No homozygotes observed.

Benign criteria applied · 2
BP1Supporting
BP1 · supporting

BARD1 is a tumor suppressor gene where primarily loss-of-function (truncating, nonsense, splice-disrupting) variants are known to cause disease. NM_000465.4:c.1325C>T is a missense variant (p.Pro442Leu), and missense variants are not the established disease mechanism for BARD1.

BP4Supporting
BP4 · supporting

Multiple lines of computational evidence support a benign effect: REVEL score 0.208 (well below the pathogenic threshold of ~0.5), BayesDel score -0.243647 (negative/benign), and SpliceAI max delta score 0.07 (no predicted splice impact). These independent in silico tools consistently suggest this missense change is tolerated.

Recorded classification: Likely 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: PM2 supporting, BP1 supporting benign, BP4 supporting benign; combination = 1 supporting + 2 supporting benign, which maps to Likely 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
38 / 1,612,910 alleles

gnomAD v4.1: 38 / 1,612,910 alleles. Recorded AF 2.35599e-05. Recorded homozygote count 0.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 1.19428e-05; MAF= 0.00119%, 3/251198 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 2.64117e-05; MAF= 0.00264%, 3/113586 alleles, homozygotes = 0); grpmax FAF= 7.02e-06.

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

Applied · PM2 →
gnomAD v4.1 ↗gnomAD v2.1 ↗gnomAD-Canada ↗
SpliceAI score
0.070 maximum delta

Recorded SpliceAI maximum delta score: 0.070. Refer to the recorded PP3/BP4 rationale for interpretation.

Applied · BP4 → SpliceAI ↗
ClinVar submissions
9 reported laboratory submissions

9 Uncertain significance. ClinVar API review status: criteria provided, multiple submitters, no conflicts.

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
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
COSMIC ↗Cancer Hotspots ↗
For specialists

Technical detail

ACMG/AMP criteria under Not recorded, with the data and sources behind each one.

29 criteria with recorded statuses: 3 met · 14 not met · 6 not assessed · 6 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic
PVS1PS1PS2PS3PS4PM1PM2PM3PM4PM5PM6PP1PP2PP3PP4PP5PS5
Benign
BA1BS1BS2BS3BS4BP1BP2BP3BP4BP5BP6BP7
Met Not met Not assessed Not applicable

NM_000465.4:c.1325C>T (p.Pro442Leu) is a missense variant in BARD1 present at extremely low frequency in population databases (gnomAD v2.1 AF=0.00119%; v4.1 AF=0.00236%), meeting PM2 at supporting level.

Multiple in silico tools consistently predict a benign effect: REVEL score 0.208, BayesDel score -0.244, and SpliceAI max delta 0.07, meeting BP4 at supporting level.

BARD1 is a tumor suppressor gene where primarily loss-of-function variants cause disease; this missense variant meets BP1 at supporting level.

No functional studies, case-control data, de novo observations, co-segregation data, or pathogenic same-residue comparators exist for this variant. ClinVar classifies it as a Variant of Uncertain Significance (9 clinical laboratories).

Two supporting benign criteria (BP1 and BP4) are met with no moderate or strong criteria on either side. Per generic ACMG/AMP 2015 combination rules, two supporting benign criteria warrant a classification of Likely Benign.

Met · 3

PM2 SupportingThis variant is present at extremely low frequency in population databases. gnomAD v2.1: 3/251,198 alleles (AF=0.00119%); gnomAD v4.1: 38/1,612,910 alleles (AF=0.00236%); absent from gnomAD-Canada. All allele frequencies are well below the 0.1% PM2 threshold. No homozygotes observed. Details ▾Hide ▴
Evidence considered
  • gnomAD v2.1 AF=0.00119% (3/251
  • 198 alleles
  • 0 homozygotes)
  • gnomAD v4.1 AF=0.00236% (38/1
  • 612
  • 910 alleles
  • grpmax FAF=2.155e-05
  • absent from gnomAD-Canada.
Sources
gnomad_v2 ↗gnomad_v4 ↗gnomad_canada ↗
BP1 SupportingBARD1 is a tumor suppressor gene where primarily loss-of-function (truncating, nonsense, splice-disrupting) variants are known to cause disease. NM_000465.4:c.1325C>T is a missense variant (p.Pro442Leu), and missense variants are not the established disease mechanism for BARD1. Details ▾Hide ▴
Evidence considered
  • BARD1 germline LoF mechanism is supported by disease literature (PVS1 gene context). Missense variants are not the primary pathogenic mechanism.
Sources
pvs1_gene_context
BP4 SupportingMultiple lines of computational evidence support a benign effect: REVEL score 0.208 (well below the pathogenic threshold of ~0.5), BayesDel score -0.243647 (negative/benign), and SpliceAI max delta score 0.07 (no predicted splice impact). These independent in silico tools consistently suggest this missense change is tolerated. Details ▾Hide ▴
Evidence considered
  • REVEL=0.208 (benign)
  • BayesDel=-0.244 (benign)
  • SpliceAI max delta=0.07 (no splice impact). ClinVar submitter Ambry Genetics notes the alteration is predicted to be tolerated by in silico analysis.
Sources
revelbayesdelspliceai ↗

Not met · 14 · evaluated, threshold not reached

PS1 No known pathogenic variant at amino acid position 442 (Pro442) with a different substitution has been identified in ClinVar or the reviewed literature. PS1 requires a pathogenic missense change at the same residue. Details ▾Hide ▴
Evidence considered
  • No pathogenic or likely pathogenic missense variant at BARD1 codon 442 was identified in ClinVar or in the literature reviewed for this case.
Sources
clinvar ↗pm5_candidates
PS3 No functional studies have directly tested BARD1 Pro442Leu or a systematically characterized range that includes position 442. ClinVar submissions explicitly note that functional studies have not been reported for this variant. In silico predictions are BP4 territory, not PS3. Details ▾Hide ▴
Evidence considered
  • ClinVar submissions (Color
  • LabCorp) confirm no functional studies reported for this variant. OncoKB reports Unknown Oncogenic Effect with no variant-specific functional evidence. No PMIDs with functional data for this variant were identified in the literature pass.
Still missing
  • No functional assay data exist for this variant.
Sources
clinvar ↗oncokb ↗
PS4 No case-control studies or sufficient enrichment data in affected individuals are available for this variant. The ClinVar-associated PMIDs are practice guidelines and consensus statements, not observational studies reporting variant prevalence in affected vs. unaffected cohorts. Details ▾Hide ▴
Evidence considered
  • ClinVar classification is VUS with 9 clinical laboratory submissions
  • none provide case-control or cohort enrichment data for PS4.
Still missing
  • No case-control or cohort enrichment studies available.
Sources
clinvar ↗
PM1 The variant (p.Pro442Leu) does not lie in a statistically significant mutational hotspot as assessed by cancerhotspots.org. Although position 442 falls within the BARD1 ANK repeat region (aa ~420-555), no domain-specific characterization data were identified in the case materials to support PM1 at domain level, and no ClinVar PM1 signal was raised by any submitter. Details ▾Hide ▴
Evidence considered
  • Cancerhotspots.org: residue not significant
  • exact variant not listed. No domain-specific functional characterization data in case materials.
Still missing
  • Domain-level functional characterization of the BARD1 ANK repeat region could potentially support PM1 if available in literature not captured by this case.
PM6 No de novo observation has been reported for this variant. PM6 requires a de novo event with unconfirmed parentage. Details ▾Hide ▴
Evidence considered
  • No de novo reports identified in ClinVar
  • literature
  • or case materials.
Still missing
  • No de novo data available.
PP2 BARD1 is a tumor suppressor gene where loss-of-function (truncating, nonsense, splice) variants are the established disease mechanism. Missense variants are not a common mechanism of disease for BARD1; PP2 does not apply. Details ▾Hide ▴
Evidence considered
  • BARD1 LoF mechanism supported by germline disease literature (PVS1 gene context confirms LoF mechanism). Missense variants are not the primary disease mechanism.
Sources
pvs1_gene_context
PP3 Multiple in silico tools predict a benign effect for this variant: REVEL score 0.208 (well below the pathogenic threshold of ~0.5), BayesDel score -0.243647 (negative, benign), and SpliceAI max delta 0.07 (no predicted splice impact). These do not support a deleterious effect. Details ▾Hide ▴
Evidence considered
  • REVEL=0.208
  • BayesDel=-0.244
  • SpliceAI max delta=0.07. All indicate benign/tolerated.
Sources
revelbayesdelspliceai ↗
PP5 This variant is classified as Uncertain Significance (VUS) in ClinVar by 9 clinical laboratories, not Pathogenic or Likely Pathogenic. The ClinVar-associated PMIDs are practice guidelines, review articles, and consensus statements that do not reference this specific variant. None of the candidate PP5 papers mention NM_000465.4:c.1325C>T. Details ▾Hide ▴
Evidence considered
  • ClinVar: VUS
  • 9 clinical labs
  • no expert panel classification. Associated PMIDs (24366402
  • 26389258
  • 31479213
  • 35802134) are guidelines/reviews that do not mention this variant.
Sources
clinvar ↗
BA1 The allele frequency of this variant in gnomAD v2.1 (0.00119%) and v4.1 (0.00236%) is well below the 1% BA1 threshold. The variant is too rare to apply BA1. Details ▾Hide ▴
Evidence considered
  • gnomAD v2.1 AF=0.00119%
  • v4.1 AF=0.00236%
  • both << 1%.
Sources
gnomad_v2 ↗gnomad_v4 ↗
BS1 The allele frequency of this variant (gnomAD v2.1: 0.00119%, v4.1: 0.00236%) is below the 0.3% BS1 threshold. The variant is not sufficiently common in population databases to apply BS1. Details ▾Hide ▴
Evidence considered
  • gnomAD v2.1 AF=0.00119%
  • v4.1 AF=0.00236%
  • both < 0.3%.
Sources
gnomad_v2 ↗gnomad_v4 ↗
BS3 No functional studies demonstrating a neutral or benign effect exist for this variant. BS3 requires well-established in vitro or in vivo functional studies showing no damaging effect on protein function or splicing. In silico predictions alone (BP4) do not constitute BS3 evidence. Details ▾Hide ▴
Evidence considered
  • No functional assays have been performed on this variant
  • absence of functional data does not satisfy BS3.
Still missing
  • No functional studies of any kind exist for this variant.
BP2 No evidence that this variant has been observed in trans with a known pathogenic variant in BARD1. BP2 requires observation in trans with a pathogenic variant for a fully penetrant dominant disorder, or in cis with a pathogenic variant in a recessive disorder. Details ▾Hide ▴
Evidence considered
  • No phase data available for this variant.
Still missing
  • No trans/cis phase information available.
BP5 No observation of this variant in a case with an alternate molecular basis for disease has been reported. BP5 requires that the variant be found in a patient with an alternate cause of their disease. Details ▾Hide ▴
Evidence considered
  • No data on alternate molecular diagnoses in carriers of this variant.
Still missing
  • No data on alternate genetic diagnoses in carriers.
BP6 ClinVar classifies this variant as Uncertain Significance, not Benign or Likely Benign. No expert panel or reputable source has classified this variant as benign. BP6 requires a reputable source to classify the variant as benign. Details ▾Hide ▴
Evidence considered
  • ClinVar: VUS (9 clinical laboratories). No benign classification from any submitter or expert panel.
Sources
clinvar ↗

Not assessed · 6 · no assessment recorded

PS2 No de novo data are available for this variant. PS2 requires a de novo observation with confirmed maternity and paternity. Details ▾Hide ▴
Still missing
  • No de novo testing or trio data available for this variant.
PP1 No co-segregation data are available for this variant. PP1 requires evidence of co-segregation with disease in multiple affected family members. Details ▾Hide ▴
Still missing
  • No family segregation data available.
PP4 No patient phenotype or specific clinical data are available for the individuals carrying this variant. PP4 requires a phenotype highly specific for the gene/disease. Details ▾Hide ▴
Still missing
  • No patient phenotype data in case materials.
BS2 No evidence is available that this variant has been observed in healthy adults with full penetrance expected at an early age. The three gnomAD observations do not include phenotype data, and there are no published reports of this variant in healthy controls. Details ▾Hide ▴
Still missing
  • No phenotype-linked observations in healthy adult controls.
BS4 No co-segregation data demonstrating lack of segregation with disease are available. BS4 requires observation that the variant does not segregate with disease in affected family members. Details ▾Hide ▴
Still missing
  • No family segregation data available.
PS5 No de novo observation with confirmed maternity and paternity has been reported for this variant. PS5 (new in Tavtigian et al. 2018) requires a proven de novo occurrence. Details ▾Hide ▴
Still missing
  • No de novo data available.
Not applicable · 6· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/APVS1 applies only to null variants (nonsense, frameshift, or canonical splice site variants). NM_000465.4:c.1325C>T is a missense variant (p.Pro442Leu) in exon 5 and does not fall into any PVS1 null-variant bucket. Details ▾Hide ▴
Evidence considered
  • Missense variant at codon 442
  • not a null variant class eligible for PVS1 under ClinGen SVI PVS1 recommendations (PMC6185798).
Sources
pvs1_variant_assessment
PM3 N/APM3 applies to recessive disorders with a pathogenic variant observed in trans. BARD1-associated cancer predisposition is inherited in an autosomal dominant manner. Details ▾Hide ▴

No further detail was recorded.

PM4 N/APM4 applies to in-frame deletions/insertions or stop-loss variants. This is a substitution variant. Details ▾Hide ▴

No further detail was recorded.

PM5 N/ANo same-residue pathogenic comparator variant was identified. PM5 requires a different pathogenic missense change at the same amino acid position. Details ▾Hide ▴
Evidence considered
  • No same-residue comparator candidates found in ClinVar
  • PM5 candidate harvesting returned empty.
Sources
pm5_candidates
BP3 N/ABP3 applies to in-frame deletions/insertions in repetitive regions without a known function. This is a substitution variant. Details ▾Hide ▴

No further detail was recorded.

BP7 N/ABP7 applies to synonymous variants with no predicted splice impact. NM_000465.4:c.1325C>T is a missense variant (p.Pro442Leu), not a synonymous variant. Details ▾Hide ▴
Evidence considered
  • Missense variant
  • BP7 is for synonymous variants only.

Identifiers

Gene
BARD1
Transcript
NM_000465.4
Coding (HGVS c.)
NM_000465.4:c.1325C>T
Protein (HGVS p.)
NP_000456.2:p.(Pro442Leu)
GRCh38
chr2:214769302 G>A
GRCh37
chr2:215634026 G>A
ClinVar
182045

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…
gnomAD v4.1 38 / 1,612,910 alleles AF 2.36e-05 · 0 homozygotes · FAF 2.15e-05
gnomAD v2.1 3 / 251,198 alleles AF 1.19e-05 · 0 homozygotes · FAF 7.02e-06
gnomAD-Canada v1.0 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 2.4e-05 · 38 / 1,612,910 alleles · 0 hom · FAF 2.2e-05
Remaining individuals2 / 62,462 3.2e-05
European (non-Finnish)35 / 1,178,998 3e-05
African/African American1 / 74,996 1.3e-05
0 alternate alleles recorded in 7 other groups: Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish.

gnomAD v2.1

AF 1.2e-05 · 3 / 251,198 alleles · 0 hom · FAF 7e-06
European (non-Finnish)3 / 113,586 2.6e-05
0 alternate alleles recorded in 7 other groups: African/African American, Admixed American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals, South Asian.

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 2.35599e-05; MAF= 0.00236%, 38/1612910 alleles, homozygotes = 0) and has highest observed frequency in the Remaining individuals population (AF= 3.20195e-05; MAF= 0.00320%, 2/62462 alleles, homozygotes = 0); grpmax FAF= 2.155e-05.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 1.19428e-05; MAF= 0.00119%, 3/251198 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 2.64117e-05; MAF= 0.00264%, 3/113586 alleles, homozygotes = 0); grpmax FAF= 7.02e-06.

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

SpliceAI and Pangolin

SpliceAI acceptor lossat +10 bp
0.070
SpliceAI acceptor gainat -31 bp
0.000
SpliceAI donor lossat -73 bp
0.020
SpliceAI donor gainat +10 bp
0.000
Pangolin splice lossmagnitude shown
-0.030
Pangolin splice gain
0.000

Other predictors

REVEL
0.208
BayesDel
-0.244

How the predictions were used

BP4 SupportingMultiple lines of computational evidence support a benign effect: REVEL score 0.208 (well below the pathogenic threshold of ~0.5), BayesDel score -0.243647 (negative/benign), and SpliceAI max delta score 0.07 (no predicted splice impact). These independent in silico tools consistently suggest this missense change is tolerated. Details ▾Hide ▴
Evidence considered
  • REVEL=0.208 (benign)
  • BayesDel=-0.244 (benign)
  • SpliceAI max delta=0.07 (no splice impact). ClinVar submitter Ambry Genetics notes the alteration is predicted to be tolerated by in silico analysis.
Sources
revelbayesdelspliceai ↗
PP3 Multiple in silico tools predict a benign effect for this variant: REVEL score 0.208 (well below the pathogenic threshold of ~0.5), BayesDel score -0.243647 (negative, benign), and SpliceAI max delta 0.07 (no predicted splice impact). These do not support a deleterious effect. Details ▾Hide ▴
Evidence considered
  • REVEL=0.208
  • BayesDel=-0.244
  • SpliceAI max delta=0.07. All indicate benign/tolerated.
Sources
revelbayesdelspliceai ↗
BP7 N/ABP7 applies to synonymous variants with no predicted splice impact. NM_000465.4:c.1325C>T is a missense variant (p.Pro442Leu), not a synonymous variant. Details ▾Hide ▴
Evidence considered
  • Missense variant
  • BP7 is for synonymous variants only.

Statement

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.07). REVEL score = 0.208. BayesDel score = -0.243647.

6 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

  • 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.
    Richards et al. 2015 ACMG/AMP standards and guidelines for sequence variant interpretation. A foundational framework document that does not reference any specific BARD1 variant.
    Does not name this variant
    PMID 25741868 ↗
  • Customizing local and systemic therapies for women with early breast cancer: the St. Gallen International Consensus Guidelines for treatment of early breast cancer 2021.
    St. Gallen International Consensus Guidelines for treatment of early breast cancer (2021). Discusses breast cancer management broadly; does not reference any specific BARD1 variant or BARD1 gene.
    Does not name this variant
    PMID 34242744 ↗
  • 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.
    2014
    USPSTF patient summary on BRCA-related cancer genetic risk assessment. Discusses BRCA1/BRCA2 screening recommendations; does not reference BARD1 or any specific BARD1 variant.
    Does not name this variant
    PMID 24366402 ↗
  • Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.
    PDQ Cancer Genetics Editorial Board · 2002
    PDQ Cancer Genetics Risk Assessment and Counseling summary. A general educational resource on cancer genetics counseling that does not reference any specific BARD1 variant.
    Does not name this variant
    PMID 26389258 ↗
  • PMID 31479213
    No paper-specific finding is recorded.
    PMID 31479213 ↗
  • ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
    ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing. Lists recommended genes for secondary finding return; BARD1 is not included in the ACMG SF v3.1 list, and no specific variant is discussed.
    Does not name this variant
    PMID 35802134 ↗

Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.

gnomAD v4.1 38 / 1,612,910 recorded alleles Open source ↗
gnomAD v2.1 Captured gnomAD v2.1 source record Open source ↗
SpliceAI Lookup Recorded maximum delta 0.070 Open source ↗
ClinVar 9 Uncertain significance 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

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= 2.35599e-05; MAF= 0.00236%, 38/1612910 alleles, homozygotes = 0) and has highest observed frequency in the Remaining individuals population (AF= 3.20195e-05; MAF= 0.00320%, 2/62462 alleles, homozygotes = 0); grpmax FAF= 2.155e-05.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 1.19428e-05; MAF= 0.00119%, 3/251198 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 2.64117e-05; MAF= 0.00264%, 3/113586 alleles, homozygotes = 0); grpmax FAF= 7.02e-06.

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

ClinVar

This variant has been reported in ClinVar as Uncertain significance (9 clinical laboratories). (ClinVarID = 182045)

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.07). REVEL score = 0.208. BayesDel score = -0.243647.

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.