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NM_000179.3(MSH6):c.3977T>C (p.Met1326Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 23, 2015
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:
RCV000480936.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3977T>C (p.Met1326Thr)]

NM_000179.3(MSH6):c.3977T>C (p.Met1326Thr)

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.3977T>C (p.Met1326Thr)
HGVS:
  • NC_000002.12:g.47806627T>C
  • NG_007111.1:g.28481T>C
  • NG_008397.1:g.104049A>G
  • NM_000179.3:c.3977T>CMANE SELECT
  • NM_001281492.2:c.3587T>C
  • NM_001281493.2:c.3071T>C
  • NM_001281494.2:c.3071T>C
  • NP_000170.1:p.Met1326Thr
  • NP_000170.1:p.Met1326Thr
  • NP_001268421.1:p.Met1196Thr
  • NP_001268422.1:p.Met1024Thr
  • NP_001268423.1:p.Met1024Thr
  • LRG_219t1:c.3977T>C
  • LRG_219:g.28481T>C
  • LRG_219p1:p.Met1326Thr
  • NC_000002.11:g.48033766T>C
  • NM_000179.2:c.3977T>C
Protein change:
M1024T
Links:
dbSNP: rs757089977
NCBI 1000 Genomes Browser:
rs757089977
Molecular consequence:
  • NM_000179.3:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.3587T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.3071T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.3071T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000567411GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 23, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567411.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted MSH6 c.3977T>C at the cDNA level, p.Met1326Thr (M1326T) at the protein level, and results in the change of a Methionine to a Threonine (ATG>ACG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Met1326Thr was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Methionine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Met1326Thr occurs at a position that is not conserved and is located in the MutS domain V (Terui 2013). A published in silico algorithm predicted this variant to be of uncertain significance, and in house in silico analyses are inconsistent regarding the effect this variant may have on protein structure and function (Terui 2013). Based on currently available information, it is unclear whether MSH6 Met1326Thr is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024