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NM_000059.4(BRCA2):c.8631A>G (p.Glu2877=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 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:
RCV000483233.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.8631A>G (p.Glu2877=)]

NM_000059.4(BRCA2):c.8631A>G (p.Glu2877=)

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.8631A>G (p.Glu2877=)
HGVS:
  • NC_000013.11:g.32371099A>G
  • NG_012772.3:g.60620A>G
  • NM_000059.4:c.8631A>GMANE SELECT
  • NP_000050.2:p.Glu2877=
  • NP_000050.3:p.Glu2877=
  • LRG_293t1:c.8631A>G
  • LRG_293:g.60620A>G
  • LRG_293p1:p.Glu2877=
  • NC_000013.10:g.32945236A>G
  • NM_000059.3:c.8631A>G
Links:
dbSNP: rs1064796223
NCBI 1000 Genomes Browser:
rs1064796223
Molecular consequence:
  • NM_000059.4:c.8631A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000572736GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 17, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000572736.4

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

Description

This variant is denoted BRCA2 c.8631A>G at the DNA level. Although the variant is silent at the coding level, preserving a Glutamic Acid at codon 2877, it is predicted to damage the nearby natural splice donor site and cause abnormal splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Also defined as BRCA2 8859A>G using alternate nomenclature, this variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 c.8631A>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The nucleotide which is altered, an adenine (A) at base 8631, is not conserved. Based on currently available evidence, it is unclear whether BRCA2 c.8631A>G 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: Sep 1, 2024