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NM_000179.3(MSH6):c.685G>A (p.Glu229Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 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:
RCV000213373.1

Allele description [Variation Report for NM_000179.3(MSH6):c.685G>A (p.Glu229Lys)]

NM_000179.3(MSH6):c.685G>A (p.Glu229Lys)

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.685G>A (p.Glu229Lys)
HGVS:
  • NC_000002.12:g.47798668G>A
  • NG_007111.1:g.20522G>A
  • NM_000179.3:c.685G>AMANE SELECT
  • NM_001281492.2:c.295G>A
  • NM_001281493.2:c.-222G>A
  • NM_001281494.2:c.-222G>A
  • NP_000170.1:p.Glu229Lys
  • NP_000170.1:p.Glu229Lys
  • NP_001268421.1:p.Glu99Lys
  • LRG_219t1:c.685G>A
  • LRG_219:g.20522G>A
  • LRG_219p1:p.Glu229Lys
  • NC_000002.11:g.48025807G>A
  • NM_000179.2:c.685G>A
Protein change:
E229K
Links:
dbSNP: rs876660694
NCBI 1000 Genomes Browser:
rs876660694
Molecular consequence:
  • NM_001281493.2:c.-222G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281494.2:c.-222G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000179.3:c.685G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.295G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000279337GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 7, 2016) 		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, SCV000279337.9

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

Description

This variant is denoted MSH6 c.685G>A at the cDNA level, p.Glu229Lys (E229K) at the protein level, and results in the change of a Glutamic Acid to a Lysine (GAG>AAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Glu229Lys 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 Glutamic Acid and Lysine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Glu229Lys occurs at a position that is conserved in mammals and is not located in a known functional domain (Kariola 2002). 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 Glu229Lys 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 1, 2024