NM_000249.4(MLH1):c.143A>C (p.Gln48Pro) 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:
RCV000075213.3

Allele description [Variation Report for NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)]

NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)
HGVS:
  • NC_000003.12:g.36996645A>C
  • NG_007109.2:g.8296A>C
  • NG_008418.1:g.1660T>G
  • NM_000249.3:c.143A>C
  • NM_000249.4:c.143A>CMANE SELECT
  • NM_001167617.3:c.-147A>C
  • NM_001167618.3:c.-581A>C
  • NM_001167619.3:c.-489A>C
  • NM_001258271.2:c.143A>C
  • NM_001258273.2:c.-517+2982A>C
  • NM_001258274.3:c.-726A>C
  • NM_001354615.2:c.-484A>C
  • NM_001354616.2:c.-489A>C
  • NM_001354617.2:c.-581A>C
  • NM_001354618.2:c.-581A>C
  • NM_001354619.2:c.-581A>C
  • NM_001354620.2:c.-147A>C
  • NM_001354621.2:c.-674A>C
  • NM_001354622.2:c.-787A>C
  • NM_001354623.2:c.-723+2755A>C
  • NM_001354624.2:c.-684A>C
  • NM_001354625.2:c.-587A>C
  • NM_001354626.2:c.-684A>C
  • NM_001354627.2:c.-684A>C
  • NM_001354628.2:c.143A>C
  • NM_001354629.2:c.143A>C
  • NM_001354630.2:c.143A>C
  • NP_000240.1:p.Gln48Pro
  • NP_000240.1:p.Gln48Pro
  • NP_001245200.1:p.Gln48Pro
  • NP_001341557.1:p.Gln48Pro
  • NP_001341558.1:p.Gln48Pro
  • NP_001341559.1:p.Gln48Pro
  • LRG_216t1:c.143A>C
  • LRG_216:g.8296A>C
  • LRG_216p1:p.Gln48Pro
  • NC_000003.11:g.37038136A>C
Protein change:
Q48P
Links:
dbSNP: rs587778914
NCBI 1000 Genomes Browser:
rs587778914
Molecular consequence:
  • NM_001167617.3:c.-147A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-581A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-489A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-726A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-484A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-489A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-581A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-581A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-581A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-147A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-674A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-787A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-684A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-587A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-684A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-684A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-517+2982A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-723+2755A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.3:c.143A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000249.4:c.143A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.143A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.143A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.143A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.143A>C - 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
SCV000106205International 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), SCV000106205.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Multifactorial likelihood analysis posterior probability 0.95-0.99

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

Last Updated: Oct 30, 2021

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