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NM_000179.3(MSH6):c.3713C>G (p.Thr1238Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 2018
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:
RCV000485750.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3713C>G (p.Thr1238Ser)]

NM_000179.3(MSH6):c.3713C>G (p.Thr1238Ser)

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.3713C>G (p.Thr1238Ser)
HGVS:
  • NC_000002.12:g.47806270C>G
  • NG_007111.1:g.28124C>G
  • NG_008397.1:g.104406G>C
  • NM_000179.3:c.3713C>GMANE SELECT
  • NM_001281492.2:c.3323C>G
  • NM_001281493.2:c.2807C>G
  • NM_001281494.2:c.2807C>G
  • NP_000170.1:p.Thr1238Ser
  • NP_000170.1:p.Thr1238Ser
  • NP_001268421.1:p.Thr1108Ser
  • NP_001268422.1:p.Thr936Ser
  • NP_001268423.1:p.Thr936Ser
  • LRG_219t1:c.3713C>G
  • LRG_219:g.28124C>G
  • LRG_219p1:p.Thr1238Ser
  • NC_000002.11:g.48033409C>G
  • NM_000179.2:c.3713C>G
  • p.T1238S
Protein change:
T1108S
Links:
dbSNP: rs755349360
NCBI 1000 Genomes Browser:
rs755349360
Molecular consequence:
  • NM_000179.3:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.3323C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.2807C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.2807C>G - 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
SCV000565234GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 11, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000565234.3

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

Description

This variant is denoted MSH6 c.3713C>G at the cDNA level, p.Thr1238Ser (T1238S) at the protein level, and results in the change of a Threonine to a Serine (ACT>AGT). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. MSH6 Thr1238Ser was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the ATPase domain (Kansikas 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether MSH6 Thr1238Ser is a pathogenic or benign variant. 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