0%
BARD1c.928T>GUncertain significance
Print report
Variant interpretation report

BARD1 c.928T>G, p.(Ser310Ala)

NM_000465.4:c.928T>G NP_000456.2:p.(Ser310Ala) View identifiers
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.

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: 1
Pathogenic criteria applied · 1
PM2Supporting
PM2 · supporting

This variant is absent from gnomAD v2.1 (exome) and has an extremely low allele frequency in gnomAD v4.1 (AF = 6.20e-6, 10/1,613,658 alleles, 0 homozygotes; grpmax FAF = 4.29e-06). The observed frequency of 0.00062% is well below the 0.1% threshold for PM2 in non-VCEP contexts. Absent from all subpopulations except European (non-Finnish) where it is present at 8.48e-6. Not available in gnomAD-Canada.

Benign criteria applied · 1
BP4Supporting
BP4 · supporting

Multiple lines of computational evidence predict no impact on the gene product. REVEL score is 0.086 (strongly benign-leaning). BayesDel score is -0.575 (benign-leaning). SpliceAI max delta score is 0.02 (no predicted splicing impact). Multiple independent ClinVar submitters (GeneDx, Labcorp/Women's Health and Genetics) concurred that in silico analysis predicts a benign effect, with Labcorp noting 'five of five in-silico tools predict a benign effect of the variant on protein function.'

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.

SpliceAI score
0.020 maximum delta

Recorded SpliceAI maximum delta score: 0.020. Refer to the recorded PP3/BP4 rationale for interpretation.

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

5 Uncertain significance · 1 Likely benign.

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: 2 met · 8 not met · 13 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

This variant is a missense substitution in BARD1 (NM_000465.4:c.928T>G, p.Ser310Ala) located in exon 4. BARD1 is a tumor suppressor gene involved in the DNA damage response, with germline loss-of-function variants associated with hereditary breast and ovarian cancer susceptibility.

This variant is absent from gnomAD v2.1 and is present at an extremely low frequency in gnomAD v4.1 (AF = 6.20e-6; 10/1,613,658 alleles, all in the European non-Finnish subpopulation; 0 homozygotes). This extremely low population frequency meets PM2 at supporting strength (well below the 0.1% threshold).

Multiple lines of computational evidence predict a benign effect. REVEL score is 0.086 (strongly benign-leaning). BayesDel score is -0.575 (benign-leaning). SpliceAI max delta score is 0.02, predicting no splicing impact. Multiple independent clinical laboratories concurred that in silico tools predict a benign effect, with Labcorp noting five of five tools predicted no impact. This meets BP4 at supporting strength.

No variant-specific functional studies, case-control data, segregation data, or de novo reports were identified. The variant has been reported in ClinVar predominantly as a Variant of Uncertain Significance (5 clinical laboratories) with one Likely benign classification (Ambry Genetics). No expert panel review has been performed.

Applying generic ACMG/AMP 2015 combination rules (PMIDs:25741868): PM2 (supporting) + BP4 (supporting) results in a final classification of Variant of Uncertain Significance, as the evidence supporting pathogenicity and benign impact are insufficient to reach a more definitive classification.

Met · 2

PM2 SupportingThis variant is absent from gnomAD v2.1 (exome) and has an extremely low allele frequency in gnomAD v4.1 (AF = 6.20e-6, 10/1,613,658 alleles, 0 homozygotes; grpmax FAF = 4.29e-06). The observed frequency of 0.00062% is well below the 0.1% threshold for PM2 in non-VCEP contexts. Absent from all subpopulations except European (non-Finnish) where it is present at 8.48e-6. Not available in gnomAD-Canada. Details ▾Hide ▴
Evidence considered
  • Absent from gnomAD v2.1 (exome). Present in gnomAD v4.1 at AF = 6.20e-06 (10/1
  • 613
  • 658 alleles
  • all in European non-Finnish subpopulation). Well below PM2 threshold of 0.1%.
Sources
gnomad_v2 ↗gnomad_v4 ↗
BP4 SupportingMultiple lines of computational evidence predict no impact on the gene product. REVEL score is 0.086 (strongly benign-leaning). BayesDel score is -0.575 (benign-leaning). SpliceAI max delta score is 0.02 (no predicted splicing impact). Multiple independent ClinVar submitters (GeneDx, Labcorp/Women's Health and Genetics) concurred that in silico analysis predicts a benign effect, with Labcorp noting 'five of five in-silico tools predict a benign effect of the variant on protein function.' Details ▾Hide ▴
Evidence considered
  • REVEL 0.086 (strongly benign-leaning). BayesDel -0.575 (benign-leaning). SpliceAI max delta 0.02 (no splicing impact). Five of five in silico tools predict benign per Labcorp ClinVar submission.
Sources
revelbayesdelspliceai ↗clinvar ↗

Not met · 8 · evaluated, threshold not reached

PS3 No variant-specific functional studies have been reported for NM_000465.4:c.928T>G. ClinVar submitter Color Diagnostics noted: 'to our knowledge, functional studies have not been reported for this variant.' REVEL score (0.086) and BayesDel score (-0.575) are both benign-leaning but represent in silico predictions, not functional evidence. Details ▾Hide ▴
Evidence considered
  • Color Diagnostics ClinVar submission states no functional studies reported. REVEL 0.086 and BayesDel -0.575 are benign-leaning predictions.
Still missing
  • No functional assay data available for this variant.
Sources
clinvar ↗revelbayesdel
PM1 This variant does not lie in a statistically significant mutational hotspot in BARD1. The hotspot analysis found no enrichment at this residue. Details ▾Hide ▴
Evidence considered
  • Residue Ser310 is not a statistically significant hotspot
  • exact variant not listed in hotspot databases.
PP3 Multiple in silico tools predict a benign effect for this variant. REVEL score is 0.086 (strongly benign-leaning, well below the typical 0.5 pathogenic threshold). BayesDel score is -0.575 (benign-leaning). SpliceAI max delta score is 0.02 (no predicted splicing impact). Multiple ClinVar submitters concurred that in silico analysis predicts benign effect. Details ▾Hide ▴
Evidence considered
  • REVEL 0.086 (benign-leaning). BayesDel -0.575 (benign-leaning). SpliceAI max delta 0.02 (no splicing impact). GeneDx and Labcorp submissions both noted in silico tools predict benign effect.
Sources
revelbayesdelspliceai ↗clinvar ↗
PP5 This variant is classified as Uncertain Significance by 5 clinical laboratories in ClinVar and as Likely benign by 1 laboratory (Ambry Genetics). There is no expert panel classification. The ClinVar review status is 'criteria provided, single submitter' and there is no recent consensus pathogenic classification from a reputable source. Details ▾Hide ▴
Evidence considered
  • ClinVar: 5 VUS submissions
  • 1 Likely benign (Ambry Genetics). No expert panel classification. Review status: criteria provided
  • single submitter.
Still missing
  • No expert panel consensus classification.
Sources
clinvar ↗
BA1 The allele frequency in gnomAD v4.1 is 6.20e-6 (0.00062%), well below the 1% BA1 threshold. Not applicable. Details ▾Hide ▴
Evidence considered
  • gnomAD v4.1 AF = 0.00062%
  • far below BA1 threshold of 1%.
Sources
gnomad_v4 ↗
BS1 The allele frequency in gnomAD v4.1 is 6.20e-6 (0.00062%), well below the 0.3% BS1 threshold. Not applicable. Details ▾Hide ▴
Evidence considered
  • gnomAD v4.1 AF = 0.00062%
  • far below BS1 threshold of 0.3%.
Sources
gnomad_v4 ↗
BS3 No functional studies demonstrating no deleterious effect have been reported for this variant. REVEL (0.086) and BayesDel (-0.575) scores are benign-leaning in silico predictions, which are addressed under BP4, not BS3. Details ▾Hide ▴
Evidence considered
  • No functional studies (in vitro or in vivo) reported. Color Diagnostics submission confirms no functional studies performed.
Still missing
  • No functional assay data available.
Sources
clinvar ↗
BP6 No expert panel or reputable source has classified this variant as benign. ClinVar classification is predominantly Uncertain Significance (5 laboratories), with one Likely benign submission (Ambry Genetics). No expert panel classification exists. Details ▾Hide ▴
Evidence considered
  • ClinVar consensus is VUS
  • no expert panel classification exists. Ambry Genetics submitted Likely benign but this is a single submitter
  • not an expert panel.
Still missing
  • No expert panel review.
Sources
clinvar ↗

Not assessed · 13 · no assessment recorded

PS1 No data available on whether the same amino acid change (p.Ser310Ala) has been previously reported as pathogenic. No comparator variants at this residue with established pathogenicity were identified in the PM5 candidate search. Details ▾Hide ▴
Evidence considered
  • No known pathogenic variant at the same amino acid position (Ser310) was identified in ClinVar or literature.
Still missing
  • No same-residue comparator variant with established pathogenicity found.
PS2 No de novo data available for this variant. No publication reporting a confirmed de novo occurrence of NM_000465.4:c.928T>G was identified. Details ▾Hide ▴
Evidence considered
  • No de novo report found in ClinVar submissions or literature.
Still missing
  • No de novo testing data available.
PS4 No variant-specific case-control or prevalence data available. Tung et al. (PMID:26976419) and BCAC (PMID:33471991) studied BARD1 in breast cancer cohorts but did not report this specific variant. Insufficient data to assess enrichment in affected individuals. Details ▾Hide ▴
Evidence considered
  • BARD1 studied in large breast cancer cohorts but this specific variant (c.928T>G) was not reported in any case-control analysis.
Still missing
  • No variant-specific case-control or prevalence data.
PM6 No de novo data available. PM6 requires a confirmed de novo occurrence without confirmed maternity and paternity; no such data exists for this variant. Details ▾Hide ▴
Evidence considered
  • No de novo report found.
Still missing
  • No de novo testing data available.
PP1 No segregation data available for this variant in affected families. Details ▾Hide ▴
Evidence considered
  • No co-segregation data reported in any publication or ClinVar submission.
Still missing
  • No family segregation data available.
PP2 PP2 applies to genes where missense variants are a common mechanism of disease with a low rate of benign missense variation. For BARD1, loss-of-function is the primary disease mechanism, and systematic missense constraint data were not available for this assessment. Cannot apply PP2 without gene-specific missense constraint metrics. Details ▾Hide ▴
Evidence considered
  • BARD1 LoF mechanism supported
  • insufficient data on missense constraint to apply PP2.
Still missing
  • Gene-specific missense constraint data not available.
PP4 No specific patient phenotype information available for this variant. PP4 requires that the variant is observed in a patient with a phenotype highly specific for the gene/disease; no such data were identified. Details ▾Hide ▴
Evidence considered
  • No detailed phenotype data available for carriers of this variant.
Still missing
  • No clinical phenotype data available for variant carriers.
BS2 No data on observation of this variant in healthy adult individuals with full penetrance expected at an early age. The gnomAD observations could be from healthy controls but no specific phenotype data for carriers are available. Details ▾Hide ▴
Evidence considered
  • No healthy adult carrier data with confirmed phenotype available.
Still missing
  • No phenotype-confirmed healthy adult observation data.
BS4 No segregation data available to assess lack of cosegregation with disease. Details ▾Hide ▴
Evidence considered
  • No family segregation data reported.
Still missing
  • No family segregation data available.
BP1 BP1 applies when a missense variant occurs in a gene where only truncating variants cause disease. For BARD1, both truncating and missense variants have been associated with disease, and sufficient systematic data to determine that only truncating variants are pathogenic are not available. Details ▾Hide ▴
Evidence considered
  • BARD1: both missense and truncating variants reported in germline disease context. Insufficient evidence to assert that only truncating variants are pathogenic.
Still missing
  • Systematic gene-level data on missense vs. truncating pathogenicity distribution not available.
BP2 No data on observation of this variant in trans with a known pathogenic variant in BARD1 or another gene for a fully penetrant dominant disorder. Details ▾Hide ▴
Evidence considered
  • No observation in trans with a pathogenic variant reported.
Still missing
  • No data on trans configuration with pathogenic variants.
BP5 No data on an alternative molecular basis for disease in a case with this variant. BP5 requires observation in a case with an alternative molecular basis for disease; no such data available. Details ▾Hide ▴
Evidence considered
  • No cases reported with an established alternative molecular explanation for disease.
Still missing
  • No alternative molecular basis data available.
PS5 No de novo data available. PS5 requires a confirmed de novo occurrence with confirmed maternity and paternity; no such data exists for this variant. Details ▾Hide ▴
Evidence considered
  • No de novo report found.
Still missing
  • No de novo testing data available.
Not applicable · 6· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis is a missense variant (p.Ser310Ala) in BARD1 exon 4. It does not fall into the default generic PVS1 null-variant buckets of nonsense, frameshift, or canonical ±1,2 splice consensus variants. The generic PVS1 framework is not applicable to missense variants. Details ▾Hide ▴
Evidence considered
  • Missense substitution at codon 310
  • variant bucket = 'other'
  • apply_generic_pvs1_framework = false per PMC6185798.
Sources
pvs1_generic_framework ↗
PM3 N/APM3 requires observation in trans with a pathogenic variant for recessive disorders. BARD1 is not established as a recessive disease gene. Details ▾Hide ▴

No further detail was recorded.

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

No further detail was recorded.

PM5 N/ANo comparator variants at the same amino acid residue (Ser310) with established pathogenicity were identified. The automated PM5 candidate search found zero candidates. Details ▾Hide ▴
Evidence considered
  • PM5 candidate search returned no candidates at residue Ser310. Unable to confirm classic same-residue PM5 semantics.
Still missing
  • No pathogenic variants at Ser310 in ClinVar or literature.
BP3 N/ABP3 applies to in-frame deletions/insertions in a repetitive region without a known function. This variant is a missense substitution. Details ▾Hide ▴

No further detail was recorded.

BP7 N/ABP7 applies to synonymous (silent) variants for which splicing prediction algorithms predict no impact on the splice consensus sequence or a new splice site, and the nucleotide is not highly conserved. This variant is a missense substitution (c.928T>G, p.Ser310Ala), 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.928T>G
Protein (HGVS p.)
NP_000456.2:p.(Ser310Ala)
GRCh38
chr2:214780946 A>C
GRCh37
chr2:215645670 A>C
ClinVar
823520, 279698

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 10 / 1,613,658 alleles AF 6.2e-06 · 0 homozygotes · FAF 4.29e-06
gnomAD v2.1 Allele count data not recorded
gnomAD-Canada v1.0 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 6.2e-06 · 10 / 1,613,658 alleles · 0 hom · FAF 4.3e-06
European (non-Finnish)10 / 1,179,870 8.5e-06
0 alternate alleles recorded in 9 other groups: Remaining individuals, Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American.

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 6.1971e-06; MAF= 0.00062%, 10/1613658 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.47551e-06; MAF= 0.00085%, 10/1179870 alleles, homozygotes = 0); grpmax FAF= 4.29e-06.

gnomAD v2.1

Absent from gnomAD v2.1.

gnomAD-Canada

Not available in gnomAD-Canada v1.0.

SpliceAI and Pangolin

SpliceAI acceptor lossat -250 bp
0.000
SpliceAI acceptor gainat +370 bp
0.000
SpliceAI donor lossat +22 bp
0.020
SpliceAI donor gainat -249 bp
0.020
Pangolin splice lossmagnitude shown
-0.010
Pangolin splice gain
0.010

Other predictors

REVEL
0.086
BayesDel
-0.575

How the predictions were used

BP4 SupportingMultiple lines of computational evidence predict no impact on the gene product. REVEL score is 0.086 (strongly benign-leaning). BayesDel score is -0.575 (benign-leaning). SpliceAI max delta score is 0.02 (no predicted splicing impact). Multiple independent ClinVar submitters (GeneDx, Labcorp/Women's Health and Genetics) concurred that in silico analysis predicts a benign effect, with Labcorp noting 'five of five in-silico tools predict a benign effect of the variant on protein function.' Details ▾Hide ▴
Evidence considered
  • REVEL 0.086 (strongly benign-leaning). BayesDel -0.575 (benign-leaning). SpliceAI max delta 0.02 (no splicing impact). Five of five in silico tools predict benign per Labcorp ClinVar submission.
Sources
revelbayesdelspliceai ↗clinvar ↗
PP3 Multiple in silico tools predict a benign effect for this variant. REVEL score is 0.086 (strongly benign-leaning, well below the typical 0.5 pathogenic threshold). BayesDel score is -0.575 (benign-leaning). SpliceAI max delta score is 0.02 (no predicted splicing impact). Multiple ClinVar submitters concurred that in silico analysis predicts benign effect. Details ▾Hide ▴
Evidence considered
  • REVEL 0.086 (benign-leaning). BayesDel -0.575 (benign-leaning). SpliceAI max delta 0.02 (no splicing impact). GeneDx and Labcorp submissions both noted in silico tools predict benign effect.
Sources
revelbayesdelspliceai ↗clinvar ↗
BP7 N/ABP7 applies to synonymous (silent) variants for which splicing prediction algorithms predict no impact on the splice consensus sequence or a new splice site, and the nucleotide is not highly conserved. This variant is a missense substitution (c.928T>G, p.Ser310Ala), 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 = 0.02). REVEL score = 0.086. BayesDel score = -0.575285.

8 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.
    This is the 2015 ACMG/AMP standards and guidelines for the interpretation of sequence variants. It provides the general classification framework but does not discuss any specific BARD1 variants.
    Does not name this variant
    PMID 25741868 ↗
  • BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.
    Adam MP et al. · 1993
    This is a GeneReviews chapter on BRCA1- and BRCA2-associated hereditary breast and ovarian cancer. It discusses BARD1 as a moderate-risk breast cancer gene but does not mention any specific BARD1 variants.
    Does not name this variant
    PMID 20301425 ↗
  • PMID 24432435
    Nelson HD et al. · 2013
    No paper-specific finding is recorded.
    PMID 24432435 ↗
  • Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Versi
    This is a PDQ cancer genetics risk assessment and counseling summary. It provides general guidance on cancer genetics referral and testing but does not mention any specific BARD1 variants.
    Does not name this variant
    PMID 26389258 ↗
  • Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
    Tung N et al. · 2016
    This study evaluated the frequency of germline mutations in 25 cancer susceptibility genes, including BARD1, in 488 patients with breast cancer. BARD1 missense variants were identified in the cohort, but NM_000465.4:c.928T>G (p.Ser310Ala) was not specifically reported.
    Does not name this variant
    PMID 26976419 ↗
  • Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.
    This is the USPSTF recommendation statement on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. It discusses BRCA1/2 testing but does not mention BARD1 or any specific BARD1 variants.
    Does not name this variant
    PMID 31429903 ↗
  • PMID 31479213
    No paper-specific finding is recorded.
    PMID 31479213 ↗
  • Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
    Breast Cancer Association Consortium et al. · 2021
    This large case-control study (60,466 breast cancer cases, 53,461 controls) evaluated 34 putative breast cancer susceptibility genes. BARD1 protein-truncating variants were associated with breast cancer risk (P < 0.0001). Rare missense variants in BARD1 were evaluated but NM_000465.4:c.928T>G was not specifically reported.
    Does not name this variant
    PMID 33471991 ↗

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

gnomAD v4.1 10 / 1,613,658 recorded alleles Open source ↗
gnomAD v2.1 Captured gnomAD v2.1 source record Open source ↗
SpliceAI Lookup Recorded maximum delta 0.020 Open source ↗
ClinVar 5 Uncertain significance · 1 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

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= 6.1971e-06; MAF= 0.00062%, 10/1613658 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.47551e-06; MAF= 0.00085%, 10/1179870 alleles, homozygotes = 0); grpmax FAF= 4.29e-06.

gnomAD v2.1

Absent from gnomAD v2.1.

gnomAD-Canada

Not available in gnomAD-Canada v1.0.

ClinVar

This variant has been reported in ClinVar as Uncertain significance (5 clinical laboratories) and as Likely benign (1 clinical laboratory). (ClinVarID = 279698)

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.02). REVEL score = 0.086. BayesDel score = -0.575285.

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.