NM_000249.3(MLH1):c.9delC (p.Phe3Leufs) AND Lynch syndrome

Clinical significance:Pathogenic (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:
RCV000075957.2

Allele description [Variation Report for NM_000249.3(MLH1):c.9delC (p.Phe3Leufs)]

NM_000249.3(MLH1):c.9delC (p.Phe3Leufs)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.3(MLH1):c.9delC (p.Phe3Leufs)
HGVS:
  • NC_000003.12:g.36993556delC
  • NG_007109.2:g.5207delC
  • NM_000249.3:c.9delC
  • NM_001258273.1:c.-624delC
  • NP_000240.1:p.Phe3Leufs
  • LRG_216t1:c.9delC
  • LRG_216:g.5207delC
  • LRG_216p1:p.Phe3Leufs
  • NC_000003.11:g.37035047delC
  • NM_000249.3:c.9del
Links:
dbSNP: 63750745
NCBI 1000 Genomes Browser:
rs63750745
Molecular consequence:
  • NM_001258273.1:c.-624delC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.3:c.9delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Lynch syndrome (HNPCC)
Synonyms:
Hereditary nonpolyposis colon cancer
Identifiers:
MedGen: C1333990; OMIM: PS120435

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000106975InSiGHTreviewed by expert panel
Pathogenic
(Sep 5, 2013)
germlineresearch

Citation Link

Description

SCV000106975

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From InSiGHT, SCV000106975.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Coding sequence variation resulting in a stop codon

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

Last Updated: Nov 28, 2017