NM_000179.3(MSH6):c.194C>T (p.Ser65Leu) AND Lynch syndrome

Clinical significance:Likely benign (Last evaluated: Sep 5, 2013)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000074698.4

Allele description [Variation Report for NM_000179.3(MSH6):c.194C>T (p.Ser65Leu)]

NM_000179.3(MSH6):c.194C>T (p.Ser65Leu)

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.194C>T (p.Ser65Leu)
Other names:
p.S65L:TCA>TTA
HGVS:
  • NC_000002.12:g.47783427C>T
  • NG_007111.1:g.5281C>T
  • NM_000179.2:c.194C>T
  • NM_000179.3:c.194C>TMANE SELECT
  • NM_001281492.2:c.194C>T
  • NM_001281493.2:c.-543C>T
  • NP_000170.1:p.Ser65Leu
  • NP_000170.1:p.Ser65Leu
  • NP_001268421.1:p.Ser65Leu
  • LRG_219t1:c.194C>T
  • LRG_219:g.5281C>T
  • LRG_219p1:p.Ser65Leu
  • NC_000002.11:g.48010566C>T
  • P52701:p.Ser65Leu
Protein change:
S65L
Links:
UniProtKB: P52701#VAR_038034; dbSNP: rs41294984
NCBI 1000 Genomes Browser:
rs41294984
Molecular consequence:
  • NM_001281493.2:c.-543C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000179.2:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000179.3:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.194C>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
SCV000107903International Society for Gastrointestinal Hereditary Tumours (InSiGHT)reviewed by expert panel
Likely benign
(Sep 5, 2013)
germlineresearch

Citation Link

Description

SCV000107903

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000107903.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Multifactorial likelihood analysis posterior probability 0.001-0.049

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

Last Updated: Oct 30, 2021

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