NM_000179.3(MSH6):c.3G>T (p.Met1Ile) AND Lynch syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jun 21, 2019)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000680209.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3G>T (p.Met1Ile)]

NM_000179.3(MSH6):c.3G>T (p.Met1Ile)

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.3G>T (p.Met1Ile)
HGVS:
  • NC_000002.12:g.47783236G>T
  • NG_007111.1:g.5090G>T
  • NM_000179.2:c.3G>T
  • NM_000179.3:c.3G>TMANE SELECT
  • NM_001281492.2:c.3G>T
  • NM_001281493.2:c.-734G>T
  • NP_000170.1:p.Met1Ile
  • NP_000170.1:p.Met1Ile
  • NP_001268421.1:p.Met1Ile
  • LRG_219t1:c.3G>T
  • LRG_219:g.5090G>T
  • LRG_219p1:p.Met1Ile
  • NC_000002.11:g.48010375G>T
Protein change:
M1I
Links:
dbSNP: rs876660095
NCBI 1000 Genomes Browser:
rs876660095
Molecular consequence:
  • NM_001281493.2:c.-734G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000179.3:c.3G>T - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001281492.2:c.3G>T - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_000179.2:c.3G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000179.3:c.3G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.3G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome
Synonyms:
Familial nonpolyposis colon cancer
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100; OMIM: PS120435

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000807674International Society for Gastrointestinal Hereditary Tumours (InSiGHT)reviewed by expert panel
Likely pathogenic
(Jun 21, 2019)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000807674.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant in the initiation codon of MSH6

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

Last Updated: Oct 30, 2021

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