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NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 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:
RCV000779991.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu)]

NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu)
HGVS:
  • NC_000013.11:g.32337277C>G
  • NG_012772.3:g.26798C>G
  • NM_000059.4:c.2922C>GMANE SELECT
  • NP_000050.2:p.Asp974Glu
  • NP_000050.3:p.Asp974Glu
  • LRG_293t1:c.2922C>G
  • LRG_293:g.26798C>G
  • LRG_293p1:p.Asp974Glu
  • NC_000013.10:g.32911414C>G
  • NM_000059.3:c.2922C>G
Protein change:
D974E
Links:
dbSNP: rs929538989
NCBI 1000 Genomes Browser:
rs929538989
Molecular consequence:
  • NM_000059.4:c.2922C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000916976Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 6, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916976.1

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

Description

Variant summary: The BRCA2 c.2922C>G (p.Asp974Glu) variant involves the alteration of a non-conserved nucleotide and 3/5 in silico tools predict a benign outcome for this variant. However, these predictions have yet to be functionally assessed. This variant is absent in 244344 control chromosomes (gnomAD). The variant of interest has not, to our knowledge, been reported in affected individuals via publications. A reputable database cites the variant with a classification of "UV." Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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

Last Updated: Sep 29, 2024