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NM_000465.4(BARD1):c.305A>T (p.Asp102Val) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003230782.1

Allele description [Variation Report for NM_000465.4(BARD1):c.305A>T (p.Asp102Val)]

NM_000465.4(BARD1):c.305A>T (p.Asp102Val)

Gene:
BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000465.4(BARD1):c.305A>T (p.Asp102Val)
HGVS:
  • NC_000002.12:g.214792356T>A
  • NG_012047.3:g.22356A>T
  • NM_000465.4:c.305A>TMANE SELECT
  • NM_001282543.2:c.248A>T
  • NM_001282545.2:c.215+4705A>T
  • NM_001282548.2:c.158+17056A>T
  • NM_001282549.2:c.305A>T
  • NP_000456.2:p.Asp102Val
  • NP_001269472.1:p.Asp83Val
  • NP_001269478.1:p.Asp102Val
  • LRG_297t1:c.305A>T
  • LRG_297:g.22356A>T
  • LRG_297p1:p.Asp102Val
  • NC_000002.11:g.215657080T>A
  • NM_000465.3:c.305A>T
  • NR_104216.2:n.419A>T
Protein change:
D102V
Molecular consequence:
  • NM_001282545.2:c.215+4705A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+17056A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.4:c.305A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.248A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282549.2:c.305A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104216.2:n.419A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003926627KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 29, 2023) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV003926627.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)

Description

A variant of unknown significance was detected in the BARD1 gene (c.305A>T). This sequence change replaces aspargine with valine at codon 102 of the BARD1 protein (p.Asp102Val). This variantnot present in population databases (gnomAD). This variant has not been reported in the literature in individuals with BARD1-related disease. . In-silico predictions show pathogenic computational verdict based on 3 pathigenic predictions from SIFT, Polyphen and MetaRNN vs 10 uncertain BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, MVP, MutationTaster, PrimateAI ,REVEL and CAP. The position is not strongly conserved ( PhyloP=2.6) .Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024