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NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 24, 2017
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:
RCV000484312.1

Allele description

NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp)

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.2251C>T (p.Arg751Trp)
Other names:
NP_000456.2:p.Arg751Trp
HGVS:
  • NC_000002.12:g.214728759G>A
  • NG_012047.2:g.85946C>T
  • NG_012047.3:g.85953C>T
  • NM_000465.4:c.2251C>TMANE SELECT
  • NM_001282543.2:c.2194C>T
  • NM_001282545.2:c.898C>T
  • NM_001282548.2:c.841C>T
  • NM_001282549.2:c.712C>T
  • NP_000456.2:p.Arg751Trp
  • NP_001269472.1:p.Arg732Trp
  • NP_001269474.1:p.Arg300Trp
  • NP_001269477.1:p.Arg281Trp
  • NP_001269478.1:p.Arg238Trp
  • LRG_297t1:c.2251C>T
  • LRG_297:g.85953C>T
  • LRG_297p1:p.Arg751Trp
  • NC_000002.11:g.215593483G>A
  • NM_000465.2:c.2251C>T
  • NM_000465.3:c.2251C>T
  • NR_104212.2:n.2216C>T
  • NR_104215.2:n.2159C>T
  • NR_104216.2:n.1415C>T
Protein change:
R238W
Links:
dbSNP: rs139785364
NCBI 1000 Genomes Browser:
rs139785364
Molecular consequence:
  • NM_000465.4:c.2251C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.2194C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282545.2:c.898C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282548.2:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282549.2:c.712C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.2216C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.2159C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104216.2:n.1415C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000565855GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 24, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000565855.4

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

Description

This variant is denoted BARD1 c.2251C>T at the cDNA level, p.Arg751Trp (R751W) at the protein level, and results in the change of an Arginine to a Tryptophan (CGG>TGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BARD1 Arg751Trp was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Arginine and Tryptophan differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BARD1 Arg751Trp occurs at a position that is conserved through mammals and is located within the BRCT2 domain (UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether BARD1 Arg751Trp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Jun 18, 2022