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NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His) AND BRCA2-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001535553.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His)]

NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His)

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.9952A>C (p.Asn3318His)
HGVS:
  • NC_000013.11:g.32398465A>C
  • NG_012772.3:g.87986A>C
  • NM_000059.4:c.9952A>CMANE SELECT
  • NP_000050.2:p.Asn3318His
  • NP_000050.3:p.Asn3318His
  • LRG_293t1:c.9952A>C
  • LRG_293:g.87986A>C
  • LRG_293p1:p.Asn3318His
  • NC_000013.10:g.32972602A>C
  • NM_000059.3:c.9952A>C
  • U43746.1:n.10180A>C
  • p.N3318H
Nucleotide change:
10180A>C
Protein change:
N3318H
Links:
dbSNP: rs80359256
NCBI 1000 Genomes Browser:
rs80359256
Molecular consequence:
  • NM_000059.4:c.9952A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
BRCA2-related disorder
Synonyms:
BRCA2-Related Disorders; BRCA2-related condition
Identifiers:
MedGen: CN239275

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749530GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749530.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 04-10-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Sep 29, 2024