NM_000059.3(BRCA2):c.1254A>C (p.Ser418=) AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 21, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000588164.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.1254A>C (p.Ser418=)]

NM_000059.3(BRCA2):c.1254A>C (p.Ser418=)

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.1254A>C (p.Ser418=)
HGVS:
  • NC_000013.11:g.32332732A>C
  • NG_012772.3:g.22253A>C
  • NM_000059.3:c.1254A>C
  • NP_000050.2:p.Ser418=
  • LRG_293t1:c.1254A>C
  • LRG_293:g.22253A>C
  • LRG_293p1:p.Ser418=
  • NC_000013.10:g.32906869A>C
Links:
dbSNP: rs1052409595
NCBI 1000 Genomes Browser:
rs1052409595
Molecular consequence:
  • NM_000059.3:c.1254A>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000694525Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Aug 21, 2019)
germlineclinical testing

Citation Link

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, SCV000694525.2

#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: Jun 14, 2021

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