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NM_000059.4(BRCA2):c.8786T>G (p.Leu2929Trp) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 29, 2018
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:
RCV000828154.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.8786T>G (p.Leu2929Trp)]

NM_000059.4(BRCA2):c.8786T>G (p.Leu2929Trp)

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.8786T>G (p.Leu2929Trp)
HGVS:
  • NC_000013.11:g.32379348T>G
  • NG_012772.3:g.68869T>G
  • NM_000059.4:c.8786T>GMANE SELECT
  • NP_000050.2:p.Leu2929Trp
  • NP_000050.3:p.Leu2929Trp
  • LRG_293t1:c.8786T>G
  • LRG_293:g.68869T>G
  • LRG_293p1:p.Leu2929Trp
  • NC_000013.10:g.32953485T>G
  • NM_000059.3:c.8786T>G
Protein change:
L2929W
Links:
dbSNP: rs1593936564
NCBI 1000 Genomes Browser:
rs1593936564
Molecular consequence:
  • NM_000059.4:c.8786T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000969836GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(May 29, 2018) 		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, SCV000969836.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 1, 2024