NM_000059.3(BRCA2):c.5191C>A (p.His1731Asn) AND not specified

Clinical significance:Likely benign (Last evaluated: Feb 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000044600.6

Allele description [Variation Report for NM_000059.3(BRCA2):c.5191C>A (p.His1731Asn)]

NM_000059.3(BRCA2):c.5191C>A (p.His1731Asn)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.5191C>A (p.His1731Asn)
Other names:
p.H1731N:CAT>AAT
HGVS:
  • NC_000013.11:g.32339546C>A
  • NG_012772.3:g.29067C>A
  • NM_000059.3:c.5191C>A
  • NP_000050.2:p.His1731Asn
  • LRG_293t1:c.5191C>A
  • LRG_293:g.29067C>A
  • LRG_293p1:p.His1731Asn
  • NC_000013.10:g.32913683C>A
  • U43746.1:n.5419C>A
Nucleotide change:
5419C>A
Protein change:
H1731N
Links:
dbSNP: rs80358745
NCBI 1000 Genomes Browser:
rs80358745
Molecular consequence:
  • NM_000059.3:c.5191C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000210346GeneDxcriteria provided, single submitter
Likely benign
(Feb 14, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From GeneDx, SCV000210346.6

#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: Jun 14, 2021

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