NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 7, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000484286.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)]

NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)
HGVS:
  • NC_000002.12:g.47804953CTG[1]
  • NG_007111.1:g.26807CTG[1]
  • NG_008397.1:g.105718CAG[1]
  • NM_000179.3:c.3482CTG[1]MANE SELECT
  • NM_001281492.2:c.3092CTG[1]
  • NM_001281493.2:c.2576CTG[1]
  • NM_001281494.2:c.2576CTG[1]
  • NP_000170.1:p.Ala1162del
  • NP_001268421.1:p.Ala1032del
  • NP_001268422.1:p.Ala860del
  • NP_001268423.1:p.Ala860del
  • LRG_219:g.26807CTG[1]
  • NC_000002.11:g.48032092CTG[1]
  • NM_000179.2:c.3485_3487delCTG
  • p.A1162del
Protein change:
A1032del
Links:
dbSNP: rs63751427
NCBI 1000 Genomes Browser:
rs63751427
Molecular consequence:
  • NM_000179.3:c.3482CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281492.2:c.3092CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281493.2:c.2576CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281494.2:c.2576CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000568726GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 7, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000568726.3

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

Description

This in-frame deletion of three nucleotides in MSH6 is denoted c.3485_3487delCTG at the cDNA level and p.Ala1162del (A1162del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CCTG[delCTG]AAGT. This deletion occurs in a region that is conserved across species and is located in domain V of the MutS domain (Terui 2013). In silico analyses predict that this variant is probably damaging to protein structure and function. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider MSH6 Ala1162del to be a variant of uncertain significance.

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

Last Updated: May 28, 2021

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