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NM_000059.4(BRCA2):c.545A>G (p.Glu182Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 26, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003150962.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.545A>G (p.Glu182Gly)]

NM_000059.4(BRCA2):c.545A>G (p.Glu182Gly)

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.545A>G (p.Glu182Gly)
HGVS:
  • NC_000013.11:g.32326527A>G
  • NG_012772.3:g.16048A>G
  • NM_000059.4:c.545A>GMANE SELECT
  • NP_000050.2:p.Glu182Gly
  • NP_000050.3:p.Glu182Gly
  • LRG_293t1:c.545A>G
  • LRG_293:g.16048A>G
  • LRG_293p1:p.Glu182Gly
  • NC_000013.10:g.32900664A>G
  • NM_000059.3:c.545A>G
  • p.E182G
Protein change:
E182G
Links:
dbSNP: rs786202685
NCBI 1000 Genomes Browser:
rs786202685
Molecular consequence:
  • NM_000059.4:c.545A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003839283Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Uncertain significance
(Aug 26, 2022) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839283.1

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

Description

DNA sequence analysis of the BRCA2 gene demonstrated a sequence change, c.545A>G, in exon 7 that results in an amino acid change, p.Glu182Gly. This sequence change does not appear to have been previously described in individuals with BRCA2-related disorders and has also not been described in the population databases such as ExAC and gnomAD (dbSNP rs786202685). The p.Glu182Gly change affects a highly conserved amino acid residue located in a domain of the BRCA2 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Glu182Gly substitution. Due to insufficient evidence and the lack of functional studies, the clinical significance of the p.Glu182Gly change remains unknown at this time.

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

Last Updated: Oct 8, 2024