U.S. flag

An official website of the United States government

NM_000179.3(MSH6):c.354A>G (p.Thr118=) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jul 31, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000455691.5

Allele description [Variation Report for NM_000179.3(MSH6):c.354A>G (p.Thr118=)]

NM_000179.3(MSH6):c.354A>G (p.Thr118=)

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.354A>G (p.Thr118=)
HGVS:
  • NC_000002.12:g.47791020A>G
  • NG_007111.1:g.12874A>G
  • NM_000179.3:c.354A>GMANE SELECT
  • NM_001281492.2:c.237+7550A>G
  • NM_001281493.2:c.-383A>G
  • NM_001281494.2:c.-549A>G
  • NP_000170.1:p.Thr118=
  • NP_000170.1:p.Thr118=
  • LRG_219t1:c.354A>G
  • LRG_219:g.12874A>G
  • LRG_219p1:p.Thr118=
  • NC_000002.11:g.48018159A>G
  • NM_000179.2:c.354A>G
  • p.Thr118Thr
Links:
dbSNP: rs558590898
NCBI 1000 Genomes Browser:
rs558590898
Molecular consequence:
  • NM_001281493.2:c.-383A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281494.2:c.-549A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281492.2:c.237+7550A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000179.3:c.354A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000539700Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely benign
(Oct 26, 2016)
germlineclinical testing

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

SCV005090470Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Jul 31, 2024)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000539700.1

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

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent variant. MaxMAF = 0.012% in ExAC. Classified in ClinVar as Likely Benign by Invitae (1 star).

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

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV005090470.1

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

Last Updated: Sep 29, 2024