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NM_000059.4(BRCA2):c.3786A>C (p.Ser1262=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 21, 2019
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:
RCV000781077.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.3786A>C (p.Ser1262=)]

NM_000059.4(BRCA2):c.3786A>C (p.Ser1262=)

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.3786A>C (p.Ser1262=)
HGVS:
  • NC_000013.11:g.32338141A>C
  • NG_012772.3:g.27662A>C
  • NM_000059.4:c.3786A>CMANE SELECT
  • NP_000050.2:p.Ser1262=
  • NP_000050.3:p.Ser1262=
  • LRG_293t1:c.3786A>C
  • LRG_293:g.27662A>C
  • LRG_293p1:p.Ser1262=
  • NC_000013.10:g.32912278A>C
  • NM_000059.3:c.3786A>C
Links:
dbSNP: rs1042077901
NCBI 1000 Genomes Browser:
rs1042077901
Molecular consequence:
  • NM_000059.4:c.3786A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

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    Rare skin eruption characterized by acute formation of pustules filled with NEUTROPHILS, fever, and peripheral blood LEUKOCYTOSIS. Most cases are associated with the use of an...<br/>Year introduced: 2010
    MeSH
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    MeSH
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    MeSH
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  • GALC [Lynx rufus]
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    Gene ID:124512590
    Gene

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000918887Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Aug 21, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918887.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024