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NM_000179.3(MSH6):c.1945G>T (p.Asp649Tyr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 2017
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:
RCV000485501.1

Allele description [Variation Report for NM_000179.3(MSH6):c.1945G>T (p.Asp649Tyr)]

NM_000179.3(MSH6):c.1945G>T (p.Asp649Tyr)

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.1945G>T (p.Asp649Tyr)
HGVS:
  • NC_000002.12:g.47799928G>T
  • NG_007111.1:g.21782G>T
  • NM_000179.3:c.1945G>TMANE SELECT
  • NM_001281492.2:c.1555G>T
  • NM_001281493.2:c.1039G>T
  • NM_001281494.2:c.1039G>T
  • NP_000170.1:p.Asp649Tyr
  • NP_000170.1:p.Asp649Tyr
  • NP_001268421.1:p.Asp519Tyr
  • NP_001268422.1:p.Asp347Tyr
  • NP_001268423.1:p.Asp347Tyr
  • LRG_219t1:c.1945G>T
  • LRG_219:g.21782G>T
  • LRG_219p1:p.Asp649Tyr
  • NC_000002.11:g.48027067G>T
  • NM_000179.2:c.1945G>T
Protein change:
D347Y
Links:
dbSNP: rs1064793188
NCBI 1000 Genomes Browser:
rs1064793188
Molecular consequence:
  • NM_000179.3:c.1945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.1555G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1039G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1039G>T - 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
SCV000565220GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 29, 2017) 		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, SCV000565220.5

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

Description

This variant is denoted MSH6 c.1945G>T at the cDNA level, p.Asp649Tyr (D649Y) at the protein level, and results in the change of an Aspartic Acid to a Tyrosine (GAT>TAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Asp649Tyr was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Aspartic Acid and Tyrosine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Asp649Tyr occurs at a position that is not conserved and is located within the Connector domain (Warren 2007, Kansikas 2011). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether MSH6 Asp649Tyr 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