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NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg) AND Endometrial carcinoma

Germline classification:
Uncertain significance (1 submission)
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:
RCV001353896.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)]

NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)

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.1564G>C (p.Gly522Arg)
Other names:
p.G522R:GGT>CGT
HGVS:
  • NC_000013.11:g.32333042G>C
  • NG_012772.3:g.22563G>C
  • NM_000059.4:c.1564G>CMANE SELECT
  • NP_000050.2:p.Gly522Arg
  • NP_000050.3:p.Gly522Arg
  • LRG_293t1:c.1564G>C
  • LRG_293:g.22563G>C
  • LRG_293p1:p.Gly522Arg
  • NC_000013.10:g.32907179G>C
  • NM_000059.3:c.1564G>C
  • U43746.1:n.1792G>C
  • p.G522R
Nucleotide change:
1792G>C
Protein change:
G522R
Links:
dbSNP: rs80358442
NCBI 1000 Genomes Browser:
rs80358442
Molecular consequence:
  • NM_000059.4:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Endometrial carcinoma
Synonyms:
Endometrial carcinoma, somatic
Identifiers:
MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591753Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591753.2

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

Description

The p.Gly522Arg variant was not identified in the literature but has been reported in the dbSNP (rs80358442), Exome Server Project, UMD (1x as an unknown variant) and BIC (7x with unknown clinical importance) databases. This residue is not conserved in mammals, increasing the likelihood this variant may not have clinical significance. Computational analyses (PolyPhen2, SIFT, AlignGVGD, BLOSUM) provide inconsistent predictions regarding the impact to the protein and this information is not very predictive of pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.

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

Last Updated: Apr 20, 2024