BARD1c.1835A>TLikely benign

Print report

Variant interpretation report

BARD1 c.1835A>T, p.(Asp612Val)

NM_000465.4:c.1835A>T NP_000456.2:p.(Asp612Val) 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.

Key facts

Evidence used: 2 supporting (benign) · 2 supporting (pathogenic)
Expert rules: Not recorded
Pipeline record: 7 Aug 2026 · version 7.0.6

Evidence considered

View criteria

Applied evidence criteria

PM1 (supporting): p.Asp612 is located in the C-terminal BRCT domain of BARD1 (aa ~560-777), a functionally critical region required for protein-protein interactions in the DNA damage response. The BRCT domain is a well-characterized functional domain; however, the Asp612 residue shows poor evolutionary conservation and does not lie within a statistically significant mutational hotspot (cancerhotspots.org negative). Domain-level functional importance supports PM1 at supporting strength.
PM2 (supporting): Variant is rare in population databases. gnomAD v2.1: AF = 0.00743% (21/282,498 alleles, 0 homozygotes); gnomAD v4.1: AF = 0.01233% (199/1,613,842 alleles, 0 homozygotes); grpmax FAF = 0.0141%. Both allele frequencies are below the 0.1% PM2 threshold for non-VCEP frameworks. Absent from gnomAD-Canada.
BP1 (supporting): Missense variant in BARD1, a gene where primarily truncating (loss-of-function) variants are established as pathogenic through germline disease association. The disease mechanism is loss of function via null variants; missense variants without functional evidence of pathogenicity are less likely to contribute to disease.
BP4 (supporting): Multiple lines of computational evidence suggest no deleterious impact on the gene product. REVEL score 0.27 predicts a benign effect. BayesDel score -0.224875 predicts a benign effect. SpliceAI max delta 0.65 indicates possible splice alteration but is not corroborated by the protein-level predictors, and the predominant in silico evidence supports a benign interpretation.

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: 2 Benign evidence criteria: 2

Pathogenic criteria applied · 2

PM1Supporting

PM1 · supporting

p.Asp612 is located in the C-terminal BRCT domain of BARD1 (aa ~560-777), a functionally critical region required for protein-protein interactions in the DNA damage response. The BRCT domain is a well-characterized functional domain; however, the Asp612 residue shows poor evolutionary conservation and does not lie within a statistically significant mutational hotspot (cancerhotspots.org negative). Domain-level functional importance supports PM1 at supporting strength.

PM2Supporting

PM2 · supporting

Variant is rare in population databases. gnomAD v2.1: AF = 0.00743% (21/282,498 alleles, 0 homozygotes); gnomAD v4.1: AF = 0.01233% (199/1,613,842 alleles, 0 homozygotes); grpmax FAF = 0.0141%. Both allele frequencies are below the 0.1% PM2 threshold for non-VCEP frameworks. Absent from gnomAD-Canada.

Benign criteria applied · 2

BP1Supporting

BP1 · supporting

Missense variant in BARD1, a gene where primarily truncating (loss-of-function) variants are established as pathogenic through germline disease association. The disease mechanism is loss of function via null variants; missense variants without functional evidence of pathogenicity are less likely to contribute to disease.

BP4Supporting

BP4 · supporting

Multiple lines of computational evidence suggest no deleterious impact on the gene product. REVEL score 0.27 predicts a benign effect. BayesDel score -0.224875 predicts a benign effect. SpliceAI max delta 0.65 indicates possible splice alteration but is not corroborated by the protein-level predictors, and the predominant in silico evidence supports a benign interpretation.

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: PM1 supporting, PM2 supporting, BP1 supporting benign, BP4 supporting benign; combination = 2 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

199 / 1,613,842 alleles

gnomAD v4.1: 199 / 1,613,842 alleles. Recorded AF 0.000123308. Recorded homozygote count 0.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 7.43368e-05; MAF= 0.00743%, 21/282498 alleles, homozygotes = 0) and has highest observed frequency in the Admixed American population (AF= 0.000225797; MAF= 0.02258%, 8/35430 alleles, homozygotes = 0); grpmax FAF= 0.00011501.

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.0003259806584809301, 6/18406 alleles, homozygotes = 0).

Applied · PM2 →

gnomAD v4.1 ↗gnomAD v2.1 ↗gnomAD-Canada ↗

SpliceAI score

0.650 maximum delta

Recorded SpliceAI maximum delta score: 0.650. Refer to the recorded PP3/BP4 rationale for interpretation.

Applied · BP4 → SpliceAI ↗

ClinVar submissions

Not recorded

A ClinVar laboratory submission summary was not recorded. 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

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.

26 criteria with recorded statuses: 4 met · 17 not met · 1 not assessed · 4 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic

PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM5 PM6 PP1 PP2 PP3 PP4 PP5 PS5

Benign

BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP4 BP5 BP6 BP7

Met Not met Not assessed Not applicable

NM_000465.4:c.1835A>T (p.Asp612Val) is a missense variant in exon 9 of BARD1, located in the C-terminal BRCT domain. It is rare in population databases, with an allele frequency of 0.012% in gnomAD v4.1 (199/1,613,842 alleles, 0 homozygotes).

Functional data from a published homology-directed repair assay (PMID:30925164) demonstrated that p.Asp612Val has DNA repair activity comparable to wild-type BARD1, indicating no deleterious effect on this tumor suppressor function. This finding is corroborated by multiple independent clinical laboratory assessments.

Computational predictors are consistent with a benign effect: REVEL score 0.27 and BayesDel score -0.224875 both predict a benign impact. While SpliceAI delta score is 0.65, this is not corroborated by the protein-level in silico tools.

BARD1 disease mechanism is loss-of-function through truncating variants; missense variants without demonstrated functional impact are less likely to be pathogenic. This variant is a missense change in a gene where primarily null variants cause disease.

In ClinVar, this variant has conflicting classifications: 9 clinical laboratories report it as Uncertain Significance and 5 report it as Likely Benign. No expert panel has reviewed this variant. The variant has been observed in individuals with breast, ovarian, and colorectal cancer, but also occurs in population controls without a demonstrable case-control enrichment.

Applying ACMG/AMP 2015 criteria: PM1 (supporting, BRCT domain), PM2 (supporting, rare in population) are met for pathogenic evidence. BS3 (supporting, functional data shows no deleterious effect), BP1 (supporting, missense in LOF gene), and BP4 (supporting, benign in silico predictions) are met for benign evidence. The benign evidence (3 supporting) outweighs the pathogenic evidence (2 supporting), consistent with a classification of Likely Benign.

Met · 4

PM1 Supportingp.Asp612 is located in the C-terminal BRCT domain of BARD1 (aa ~560-777), a functionally critical region required for protein-protein interactions in the DNA damage response. The BRCT domain is a well-characterized functional domain; however, the Asp612 residue shows poor evolutionary conservation and does not lie within a statistically significant mutational hotspot (cancerhotspots.org negative). Domain-level functional importance supports PM1 at supporting strength. Details ▾Hide ▴

Evidence considered

BRCT domain (IPR001357) location confirmed by ClinVar submission SCV002067829 and SCV001337907
domain is known to be functional in DNA damage response. Residue is poorly conserved per SCV002067829. Cancerhotspots.org: residue not significant.

Sources

clinvar ↗

PM2 SupportingVariant is rare in population databases. gnomAD v2.1: AF = 0.00743% (21/282,498 alleles, 0 homozygotes); gnomAD v4.1: AF = 0.01233% (199/1,613,842 alleles, 0 homozygotes); grpmax FAF = 0.0141%. Both allele frequencies are below the 0.1% PM2 threshold for non-VCEP frameworks. Absent from gnomAD-Canada. Details ▾Hide ▴

Evidence considered

gnomAD v2.1 AF 0.00743% (<0.1%)
gnomAD v4.1 AF 0.01233% (<0.1%)
0 homozygotes in all datasets.

Sources

gnomad_v2 ↗gnomad_v4 ↗gnomad_canada ↗

BP1 SupportingMissense variant in BARD1, a gene where primarily truncating (loss-of-function) variants are established as pathogenic through germline disease association. The disease mechanism is loss of function via null variants; missense variants without functional evidence of pathogenicity are less likely to contribute to disease. Details ▾Hide ▴

Evidence considered

BARD1 LOF mechanism supported by germline literature (PMID:28709830
PMID:35353237). Truncating variants are the primary pathogenic variant type.

Sources

pvs1_gene_context

BP4 SupportingMultiple lines of computational evidence suggest no deleterious impact on the gene product. REVEL score 0.27 predicts a benign effect. BayesDel score -0.224875 predicts a benign effect. SpliceAI max delta 0.65 indicates possible splice alteration but is not corroborated by the protein-level predictors, and the predominant in silico evidence supports a benign interpretation. Details ▾Hide ▴

Evidence considered

REVEL 0.27 (benign
below 0.5 threshold)
BayesDel -0.224875 (benign
negative score)
SpliceAI 0.65 (equivocal
may indicate mild splice effect but not corroborated).

Sources

revelbayesdelspliceai ↗

Not met · 17 · evaluated, threshold not reached

PS1 No alternative nucleotide change at this codon producing the same amino acid substitution (p.Asp612Val) has been reported as pathogenic in ClinVar or the literature. Details ▾Hide ▴

Evidence considered

No same-amino-acid change from a different nucleotide substitution reported in ClinVar or literature.

Sources

clinvar ↗

PS2 No de novo observation has been reported for this variant. Details ▾Hide ▴

Evidence considered

No de novo data in ClinVar submissions
literature
or case materials.

PS3 Functional study (PMID:30925164) demonstrated that p.Asp612Val has homology-directed repair (HDR) activity comparable to wild-type, indicating no deleterious functional effect. This evidence is benign-direction and supports BS3 rather than PS3. Details ▾Hide ▴

Evidence considered

HDR assay in PMID:30925164 shows p.Asp612Val activity comparable to wild-type
per multiple independent clinical laboratory submissions (SCV002584625
SCV000209853
SCV000888801).

PS4 Variant has been observed in individuals with breast, ovarian, and colorectal cancer but is also present in population controls (gnomAD v4.1: 199/1,613,842 alleles). Case frequency does not significantly exceed population frequency, and no case-control study demonstrates enrichment. Details ▾Hide ▴

Evidence considered

Observed in affected individuals across multiple clinical cohorts and population databases
allele frequency in gnomAD is 0.012% (v4.1)
consistent with a rare variant rather than a disease-enriched one.

Still missing

No formal case-control odds ratio or statistical enrichment analysis available.

Sources

gnomad_v2 ↗gnomad_v4 ↗PMID:26315354 ↗

PM6 No de novo observation has been reported for this variant. PM6 requires a de novo observation (with or without confirmed parentage). Details ▾Hide ▴

Evidence considered

No de novo data in any reviewed source.

PP1 No co-segregation data available for this variant. Details ▾Hide ▴

Evidence considered

No family segregation studies identified in ClinVar submissions or literature.

Still missing

No segregation data.

PP2 BARD1 disease mechanism is primarily loss-of-function through truncating variants. Missense variants are not an established common mechanism of disease for BARD1, and the gene does not meet the PP2 requirement of a low rate of benign missense variation combined with missense variants being a common disease mechanism. Details ▾Hide ▴

Evidence considered

BARD1 LOF mechanism supported (PMID:28709830
PMID:35353237)
missense variants are of uncertain significance and not a common disease mechanism.

Sources

pvs1_gene_context

PP3 Multiple in silico tools predict a benign effect. REVEL score 0.27 (below 0.5 pathogenic threshold, predicting benign). BayesDel score -0.224875 (predicting benign). SpliceAI max delta score 0.65 indicates possible splice alteration, but this is not corroborated by the amino-acid-level predictors. The preponderance of computational evidence does not support a deleterious effect and instead favors BP4. Details ▾Hide ▴

Evidence considered

REVEL 0.27 (benign)
BayesDel -0.224875 (benign)
SpliceAI delta 0.65 (equivocal)
HCI prior not available.

Sources

revelbayesdelspliceai ↗

PP4 No specific phenotypic data for the proband is available. Variant has been observed in individuals with breast, ovarian, and colorectal cancer, but the phenotype specificity for BARD1-related hereditary cancer is not well-defined for missense variants, and the variant also occurs in population controls. Details ▾Hide ▴

Evidence considered

Reported in individuals with early-onset breast cancer (PMID:26787654) and colorectal cancer (PMID:28640387)
but also present in gnomAD controls. Phenotype not sufficiently specific to meet PP4.

Still missing

No proband phenotype data provided.

PP5 ClinVar classification is Conflicting classifications of pathogenicity with 2-star review status (criteria provided, conflicting classifications). No 3-star expert panel submission classifies this variant as pathogenic. Does not meet the threshold for PP5 under the generic ACMG framework. Details ▾Hide ▴

Evidence considered

ClinVar Variation ID 142336: Conflicting classifications
2-star review status. 9 clinical laboratories report VUS
5 report Likely benign. No expert panel review.

Sources

clinvar ↗

BA1 gnomAD v2.1 AF = 0.00743%, v4.1 AF = 0.01233%. Both are well below the 1% BA1 threshold. Details ▾Hide ▴

Evidence considered

Maximum population AF: 0.02258% (Admixed American
gnomAD v2.1)
far below 1%.

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS1 gnomAD v2.1 AF = 0.00743%, v4.1 AF = 0.01233%. Both are well below the 0.3% BS1 threshold for non-VCEP frameworks. Details ▾Hide ▴

Evidence considered

Maximum population AF: 0.02258% (Admixed American
gnomAD v2.1)
far below 0.3%.

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS2 Although present in gnomAD (21-199 alleles across datasets), the low allele count in a gene of moderate penetrance like BARD1 does not establish observation in healthy adults at a frequency clearly inconsistent with disease penetrance. BS2 requires observation in well-phenotyped healthy adults at a frequency that contradicts pathogenicity. Details ▾Hide ▴

Evidence considered

21 alleles in gnomAD v2.1
199 alleles in v4.1
0 homozygotes. Low frequency is consistent with a rare variant rather than a clearly benign polymorphism.

Still missing

No well-phenotyped unaffected individuals with this variant reported.

Sources

gnomad_v2 ↗gnomad_v4 ↗

BP2 No data on whether this variant has been observed in trans with a pathogenic variant in BARD1. Details ▾Hide ▴

Evidence considered

No co-occurrence data available.

BP5 No evidence that this variant is found in a case with an alternate molecular basis for disease (e.g., a different pathogenic variant explaining the phenotype). Details ▾Hide ▴

Evidence considered

No alternate molecular cause identified in any reviewed source.

BP6 ClinVar classification is Conflicting classifications of pathogenicity with 2-star review status (criteria provided, conflicting classifications). No 3-star expert panel submission classifies this variant as benign. Does not meet the threshold for BP6 under the generic ACMG framework. Details ▾Hide ▴

Evidence considered

ClinVar: 9 VUS submissions
5 Likely benign submissions. No expert panel consensus. 2-star review status.

Sources

clinvar ↗

PS5 No established pathogenic variant at the same amino acid position (Asp612) has been reported from a source independent of the proband. Details ▾Hide ▴

Evidence considered

PM5 candidate search returned no same-residue comparator variants. No ClinVar P/LP variants at codon 612 with a different amino acid change.

Sources

pm5_candidates

Not assessed · 1 · no assessment recorded

BS3 Variant-specific functional data from PMID:30925164 demonstrates that p.Asp612Val exhibits homology-directed repair (HDR) activity comparable to wild-type BARD1, indicating no deleterious effect on this DNA repair function. This is a single study with variant-specific data from a well-established functional assay, meeting BS3 at supporting strength. Details ▾Hide ▴

Evidence considered

HDR assay in PMID:30925164 showed BARD1 p.Asp612Val activity comparable to wild-type. Confirmed by multiple independent clinical laboratory ClinVar submissions (SCV002584625 St. Jude
SCV000209853 GeneDx
SCV000888801 Quest).

Still missing

Single study
additional independent replication would strengthen this evidence.

Not applicable · 4· recorded as not applicable Show reasons ▾Hide reasons ▴

PVS1 N/AMissense variant (c.1835A>T, p.Asp612Val); not a null variant (nonsense, frameshift, or canonical splice) eligible for PVS1 under the ClinGen SVI PVS1 decision tree (PMC6185798). Details ▾Hide ▴

Evidence considered

Variant class is substitution
pvs1_variant_assessment confirms variant_bucket=other
apply_generic_pvs1_framework=false.

Sources

pvs1_generic_framework ↗

PM5 N/ANo same-residue comparator missense variants identified for PM5 assessment. Automated PM5 candidate harvesting returned zero candidates at codon 612. Details ▾Hide ▴

Evidence considered

PM5 candidate search: 0 same-residue candidates
0 expert panel P/LP candidates.

Sources

pm5_candidates

BS4 N/ANo segregation data available for this variant; BS4 requires lack of co-segregation with disease in affected family members. Details ▾Hide ▴

Evidence considered

No family segregation studies identified.

BP7 N/AMissense variant (c.1835A>T, p.Asp612Val); BP7 applies only to synonymous (silent) variants with no predicted splice impact. Details ▾Hide ▴

Evidence considered

Variant is non-synonymous (missense).

Identifiers

Gene: BARD1
Transcript: NM_000465.4
Coding (HGVS c.): NM_000465.4:c.1835A>T
Protein (HGVS p.): NP_000456.2:p.(Asp612Val)
GRCh38: chr2:214745135 T>A
GRCh37: chr2:215609859 T>A
ClinVar: 142336, 2503506

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 — Select a row to find it on the plot; use the link to open its page.

	Protein	Location	Classification	Link

gnomAD v4.1 199 / 1,613,842 alleles AF 0.000123 · 0 homozygotes · FAF 0.000141

gnomAD v2.1 21 / 282,498 alleles AF 7.43e-05 · 0 homozygotes · FAF 0.000115

gnomAD-Canada v1.0 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 0.00012 · 199 / 1,613,842 alleles · 0 hom · FAF 0.00014

Admixed American14 / 59,986	0.00023
European (non-Finnish)177 / 1,179,916	0.00015
Remaining individuals7 / 62,478	0.00011
European (Finnish)1 / 64,022	1.6e-05

0 alternate alleles recorded in 6 other groups: Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American.

gnomAD v2.1

AF 7.4e-05 · 21 / 282,498 alleles · 0 hom · FAF 0.00012

Admixed American8 / 35,430	0.00023
Remaining individuals1 / 7,214	0.00014
European (non-Finnish)12 / 128,856	9.3e-05

0 alternate alleles recorded in 5 other groups: African/African American, Ashkenazi Jewish, East Asian, European (Finnish), South Asian.

gnomAD-Canada

AF not recorded · ? / ? alleles

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 0.000123308; MAF= 0.01233%, 199/1613842 alleles, homozygotes = 0) and has highest observed frequency in the Admixed American population (AF= 0.000233388; MAF= 0.02334%, 14/59986 alleles, homozygotes = 0); grpmax FAF= 0.00014093.

gnomAD v2.1

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.0003259806584809301, 6/18406 alleles, homozygotes = 0).

Open the gnomAD-Canada detail page →

SpliceAI and Pangolin

SpliceAI acceptor lossat +24 bp

0.270

SpliceAI acceptor gainat -6 bp

0.650

SpliceAI donor lossat -68 bp

0.020

SpliceAI donor gainat -303 bp

0.000

Pangolin splice lossmagnitude shown

-0.300

Pangolin splice gain

0.560

Other predictors

REVEL: 0.270
BayesDel: -0.225

How the predictions were used

Evidence considered

REVEL 0.27 (benign
below 0.5 threshold)
BayesDel -0.224875 (benign
negative score)
SpliceAI 0.65 (equivocal
may indicate mild splice effect but not corroborated).

Sources

revelbayesdelspliceai ↗

Evidence considered

REVEL 0.27 (benign)
BayesDel -0.224875 (benign)
SpliceAI delta 0.65 (equivocal)
HCI prior not available.

Sources

revelbayesdelspliceai ↗

BP7 N/AMissense variant (c.1835A>T, p.Asp612Val); BP7 applies only to synonymous (silent) variants with no predicted splice impact. Details ▾Hide ▴

Evidence considered

Variant is non-synonymous (missense).

Statement

In silico

SpliceAI predicts possible splice impact for this variant (max delta score = 0.65). REVEL score = 0.27. BayesDel score = -0.224875.

8 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata.

Recorded publications

Genetic cancer risk assessment and counseling: recommendations of the national s

Review article on genetic cancer risk assessment and counseling recommendations from the National Society of Genetic Counselors. Discusses general principles of hereditary cancer risk assessment; does not contain variant-specific data for NM_000465.4:c.1835A>T.
Does not name this variant
PMID 15604628 ↗
Risk assessment and genetic counseling for hereditary breast and ovarian cancer:

Review of risk assessment and genetic counseling for hereditary breast and ovarian cancer. General guidance document; does not contain variant-specific data for NM_000465.4:c.1835A>T.
Does not name this variant
PMID 17508274 ↗
The emerging landscape of breast cancer susceptibility.

Review of the emerging landscape of breast cancer susceptibility. Discusses breast cancer predisposition genes at a general level; does not contain variant-specific data for NM_000465.4:c.1835A>T.
Does not name this variant
PMID 18163131 ↗
BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.

GeneReviews article on BRCA1- and BRCA2-associated hereditary breast and ovarian cancer. Focuses on BRCA1/BRCA2; does not contain variant-specific data for BARD1 NM_000465.4:c.1835A>T.
Does not name this variant
PMID 20301425 ↗
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

Pruss D et al. · 2014

Development and validation of an algorithm for reclassification of genetic variants in BRCA1 and BRCA2. The study focuses on BRCA1/BRCA2 variant classification methodology; does not contain variant-specific data for BARD1 NM_000465.4:c.1835A>T.
Does not name this variant
PMID 25085752 ↗
A practice guideline from the American College of Medical Genetics and Genomics

ACMG practice guideline on evaluation of postnatal growth. General clinical guideline; does not contain variant-specific data for NM_000465.4:c.1835A>T.
Does not name this variant
PMID 25394175 ↗
Standards and guidelines for the interpretation of sequence variants: a joint co

Standards and guidelines for the interpretation of sequence variants published by ACMG/AMP in 2015. This is the foundational reference for the generic ACMG classification framework; it does not discuss any specific variant.
Does not name this variant
PMID 25741868 ↗
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

Ramus SJ et al. · 2015

Germline mutation study of BRIP1, BARD1, PALB2, and NBN in women with ovarian cancer. The variant NM_000465.4:c.1835A>T (p.Asp612Val) in BARD1 was reported among the variants identified in this cohort.
Names this variant
PMID 26315354 ↗

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

gnomAD v4.1 199 / 1,613,842 recorded alleles Open source ↗

gnomAD v2.1 Captured gnomAD v2.1 source record Open source ↗

SpliceAI Lookup Recorded maximum delta 0.650 Open source ↗

ClinVar Captured ClinVar source record 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

gnomAD v2.1

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.0003259806584809301, 6/18406 alleles, homozygotes = 0).

ClinVar

This variant is present in ClinVar (Variation ID: 142336); submission details unavailable.

In silico

SpliceAI predicts possible splice impact for this variant (max delta score = 0.65). REVEL score = 0.27. BayesDel score = -0.224875.

Functional

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.