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NM_000179.3(MSH6):c.956C>T (p.Thr319Met) AND Lynch syndrome 5

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 13, 2023
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:
RCV003316071.9

Allele description [Variation Report for NM_000179.3(MSH6):c.956C>T (p.Thr319Met)]

NM_000179.3(MSH6):c.956C>T (p.Thr319Met)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.956C>T (p.Thr319Met)
HGVS:
  • NC_000002.12:g.47798939C>T
  • NG_007111.1:g.20793C>T
  • NM_000179.3:c.956C>TMANE SELECT
  • NM_001281492.2:c.566C>T
  • NM_001281493.2:c.50C>T
  • NM_001281494.2:c.50C>T
  • NP_000170.1:p.Thr319Met
  • NP_000170.1:p.Thr319Met
  • NP_001268421.1:p.Thr189Met
  • NP_001268422.1:p.Thr17Met
  • NP_001268423.1:p.Thr17Met
  • LRG_219t1:c.956C>T
  • LRG_219:g.20793C>T
  • LRG_219p1:p.Thr319Met
  • NC_000002.11:g.48026078C>T
  • NM_000179.2:c.956C>T
Protein change:
T17M
Links:
dbSNP: rs188252826
NCBI 1000 Genomes Browser:
rs188252826
Molecular consequence:
  • NM_000179.3:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.566C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome 5 (LYNCH5)
Synonyms:
Colorectal cancer, hereditary nonpolyposis, type 5; Hereditary non-polyposis colorectal cancer, type 5
Identifiers:
MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004018977Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Benign
(Nov 13, 2023) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm.

Morris B, Hughes E, Rosenthal E, Gutin A, Bowles KR.

BMC Genet. 2016 Jul 1;17(1):99. doi: 10.1186/s12863-016-0407-0.

PubMed [citation]
PMID:
27363726
PMCID:
PMC4929734

Details of each submission

From Myriad Genetics, Inc., SCV004018977.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is considered benign. Homozygosity for this variant has been confirmed in one or more individuals lacking clinical features consistent with gene-specific recessive disease, indicating that this variant is unlikely to be pathogenic. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 27363726].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024