NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Oct 9, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000491655.1

Allele description

NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly)

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.3226C>G (p.Arg1076Gly)
HGVS:
  • NC_000002.12:g.47803473C>G
  • NG_007111.1:g.25327C>G
  • NM_000179.2:c.3226C>G
  • NP_000170.1:p.Arg1076Gly
  • LRG_219t1:c.3226C>G
  • LRG_219:g.25327C>G
  • LRG_219p1:p.Arg1076Gly
  • NC_000002.11:g.48030612C>G
Protein change:
R1076G
Links:
dbSNP: rs63750617
NCBI 1000 Genomes Browser:
rs63750617
Molecular consequence:
  • NM_000179.2:c.3226C>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
SCV000580189Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Oct 9, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S.

Gastroenterology. 2015 Sep;149(3):604-13.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14.

PubMed [citation]
PMID:
25980754
PMCID:
PMC4550537

Details of each submission

From Ambry Genetics, SCV000580189.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: May 3, 2018