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NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 2023
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:
RCV003441762.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)]

NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)

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.316G>A (p.Gly106Arg)
HGVS:
  • NC_000013.11:g.32319325G>A
  • NG_012772.3:g.8846G>A
  • NG_017006.2:g.1039C>T
  • NM_000059.4:c.316G>AMANE SELECT
  • NP_000050.2:p.Gly106Arg
  • NP_000050.3:p.Gly106Arg
  • LRG_293t1:c.316G>A
  • LRG_293:g.8846G>A
  • LRG_293p1:p.Gly106Arg
  • NC_000013.10:g.32893462G>A
  • NM_000059.3:c.316G>A
  • NM_000059.4:c.316G>A
  • p.G106R
Protein change:
G106R
Links:
dbSNP: rs786201916
NCBI 1000 Genomes Browser:
rs786201916
Molecular consequence:
  • NM_000059.4:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004169249GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 1, 2023) 		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, SCV004169249.1

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

Description

Published functional studies are inconclusive: in vitro studies demonstrate partially aberrant splicing and partial rescue of cell survival, though the physiological relevance of a reduction (versus a complete loss) of BRCA2 is unknown (Tubeuf et al., 2020); Observed in individuals with Fanconi Anemia, including an individual with a pathogenic variant on the opposite allele (in trans) in published literature (Tubeuf et al., 2020; Radulovic et al., 2023); Observed in individuals with a personal and/or family history of breast and/or ovarian cancer (Yadav et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Also known as 544G>A; This variant is associated with the following publications: (PMID: 31911673, 29884841, 32377563, 36721989, 32641407, 27878467, 31853058)

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

Last Updated: Sep 1, 2024