NM_000179.2(MSH6):c.968C>G (p.Thr323Ser) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Mar 23, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000562475.1

Allele description

NM_000179.2(MSH6):c.968C>G (p.Thr323Ser)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.2(MSH6):c.968C>G (p.Thr323Ser)
HGVS:
  • NC_000002.12:g.47798951C>G
  • NG_007111.1:g.20805C>G
  • NM_000179.2:c.968C>G
  • NP_000170.1:p.Thr323Ser
  • LRG_219t1:c.968C>G
  • LRG_219:g.20805C>G
  • LRG_219p1:p.Thr323Ser
  • NC_000002.11:g.48026090C>G
Protein change:
T323S
Links:
dbSNP: rs777890307
NCBI 1000 Genomes Browser:
rs777890307
Molecular consequence:
  • NM_000179.2:c.968C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000669972Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 23, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000669972.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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