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NM_005431.2(XRCC2):c.581C>T (p.Thr194Met) AND Hereditary Cancer Syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 2, 2018
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:
RCV000709055.1

Allele description

NM_005431.2(XRCC2):c.581C>T (p.Thr194Met)

Gene:
XRCC2:X-ray repair cross complementing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_005431.2(XRCC2):c.581C>T (p.Thr194Met)
HGVS:
  • NC_000007.14:g.152648904G>A
  • NG_027988.1:g.32262C>T
  • NG_027988.2:g.32262C>T
  • NM_005431.2:c.581C>TMANE SELECT
  • NP_005422.1:p.Thr194Met
  • NC_000007.13:g.152345989G>A
  • NM_005431.1:c.581C>T
Protein change:
T194M
Links:
dbSNP: rs775565256
NCBI 1000 Genomes Browser:
rs775565256
Molecular consequence:
  • NM_005431.2:c.581C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary Cancer Syndrome
Identifiers:
MedGen: CN882908

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000838289Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(Jul 2, 2018) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV000838289.1

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

Last Updated: Dec 7, 2020