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NM_058216.3(RAD51C):c.537C>T (p.His179=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 29, 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:
RCV000780672.2

Allele description [Variation Report for NM_058216.3(RAD51C):c.537C>T (p.His179=)]

NM_058216.3(RAD51C):c.537C>T (p.His179=)

Gene:
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_058216.3(RAD51C):c.537C>T (p.His179=)
HGVS:
  • NC_000017.11:g.58696825C>T
  • NG_023199.1:g.9224C>T
  • NG_047169.1:g.255G>A
  • NM_058216.3:c.537C>TMANE SELECT
  • NP_478123.1:p.His179=
  • LRG_314t1:c.537C>T
  • LRG_314:g.9224C>T
  • NC_000017.10:g.56774186C>T
  • NM_058216.1:c.537C>T
  • NM_058216.2:c.537C>T
Links:
dbSNP: rs372385738
NCBI 1000 Genomes Browser:
rs372385738
Molecular consequence:
  • NM_058216.3:c.537C>T - 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
SCV000918132Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(Aug 29, 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, SCV000918132.2

#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 29, 2024