U.S. flag

An official website of the United States government

NM_000465.4(BARD1):c.1973G>A (p.Arg658His) AND BARD1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 30, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003407748.6

Allele description [Variation Report for NM_000465.4(BARD1):c.1973G>A (p.Arg658His)]

NM_000465.4(BARD1):c.1973G>A (p.Arg658His)

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.1973G>A (p.Arg658His)
Other names:
NP_000456.2:p.Arg658His
HGVS:
  • NC_000002.12:g.214730439C>T
  • NG_012047.3:g.84273G>A
  • NM_000465.4:c.1973G>AMANE SELECT
  • NM_001282543.2:c.1916G>A
  • NM_001282545.2:c.620G>A
  • NM_001282548.2:c.563G>A
  • NM_001282549.2:c.434G>A
  • NP_000456.2:p.Arg658His
  • NP_001269472.1:p.Arg639His
  • NP_001269474.1:p.Arg207His
  • NP_001269477.1:p.Arg188His
  • NP_001269478.1:p.Arg145His
  • LRG_297t1:c.1973G>A
  • LRG_297:g.84273G>A
  • LRG_297p1:p.Arg658His
  • NC_000002.11:g.215595163C>T
  • NG_012047.2:g.84266G>A
  • NM_000465.2:c.1973G>A
  • NM_000465.3:c.1973G>A
  • NR_104212.2:n.1938G>A
  • NR_104215.2:n.1881G>A
  • NR_104216.2:n.1137G>A
Protein change:
R145H
Links:
dbSNP: rs377227840
NCBI 1000 Genomes Browser:
rs377227840
Molecular consequence:
  • NM_000465.4:c.1973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282545.2:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282548.2:c.563G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282549.2:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.1938G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.1881G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104216.2:n.1137G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
BARD1-related disorder
Synonyms:
BARD1-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004115628PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jan 30, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004115628.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BARD1 c.1973G>A variant is predicted to result in the amino acid substitution p.Arg658His. This variant has been reported in an individual with uveal melanoma that harbored variants in other genes (Table 1, Hajkova et al. 2018. PubMed ID: 29769598). This variant is reported in 0.031% of alleles in individuals of Latino descent in gnomAD. It has conflicting interpretations of benign, likely benign, and uncertain significance (https://preview.ncbi.nlm.nih.gov/clinvar/variation/230212/). Although we suspect this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024