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NM_000179.3(MSH6):c.2673C>G (p.Ile891Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 2016
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:
RCV000215122.2

Allele description

NM_000179.3(MSH6):c.2673C>G (p.Ile891Met)

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.2673C>G (p.Ile891Met)
HGVS:
  • NC_000002.12:g.47800656C>G
  • NG_007111.1:g.22510C>G
  • NM_000179.3:c.2673C>GMANE SELECT
  • NM_001281492.2:c.2283C>G
  • NM_001281493.2:c.1767C>G
  • NM_001281494.2:c.1767C>G
  • NP_000170.1:p.Ile891Met
  • NP_000170.1:p.Ile891Met
  • NP_001268421.1:p.Ile761Met
  • NP_001268422.1:p.Ile589Met
  • NP_001268423.1:p.Ile589Met
  • LRG_219t1:c.2673C>G
  • LRG_219:g.22510C>G
  • LRG_219p1:p.Ile891Met
  • NC_000002.11:g.48027795C>G
  • NM_000179.2:c.2673C>G
Protein change:
I589M
Links:
dbSNP: rs146006741
NCBI 1000 Genomes Browser:
rs146006741
Molecular consequence:
  • NM_000179.3:c.2673C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.2283C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1767C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1767C>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
SCV000279264GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 17, 2016) 		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, SCV000279264.9

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

Description

This variant is denoted MSH6 c.2673C>G at the cDNA level, p.Ile891Met (I891M) at the protein level, and results in the change of an Isoleucine to a Methionine (ATC>ATG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Ile891Met was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Isoleucine and Methionine share similar properties, this is considered a conservative amino acid substitution. MSH6 Ile891Met occurs at a position where amino acids with properties similar to Isoleucine are tolerated across species and is located in MutS domain III (Terui 2013). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether MSH6 Ile891Met 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: May 7, 2024