NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu) 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:
RCV000075448.2

Allele description [Variation Report for NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)]

NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)

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.1976G>T (p.Arg659Leu)
HGVS:
  • NC_000003.12:g.37048596G>T
  • NG_007109.2:g.60247G>T
  • NM_000249.3:c.1976G>T
  • NM_000249.4:c.1976G>TMANE SELECT
  • NM_001167617.3:c.1682G>T
  • NM_001167618.3:c.1253G>T
  • NM_001167619.3:c.1253G>T
  • NM_001258271.2:c.1896+913G>T
  • NM_001258273.2:c.1253G>T
  • NM_001258274.3:c.1253G>T
  • NM_001354615.2:c.1253G>T
  • NM_001354616.2:c.1253G>T
  • NM_001354617.2:c.1253G>T
  • NM_001354618.2:c.1253G>T
  • NM_001354619.2:c.1253G>T
  • NM_001354620.2:c.1682G>T
  • NM_001354621.2:c.953G>T
  • NM_001354622.2:c.953G>T
  • NM_001354623.2:c.953G>T
  • NM_001354624.2:c.902G>T
  • NM_001354625.2:c.902G>T
  • NM_001354626.2:c.902G>T
  • NM_001354627.2:c.902G>T
  • NM_001354628.2:c.1897-308G>T
  • NM_001354629.2:c.1877G>T
  • NM_001354630.2:c.1811G>T
  • NP_000240.1:p.Arg659Leu
  • NP_000240.1:p.Arg659Leu
  • NP_001161089.1:p.Arg561Leu
  • NP_001161090.1:p.Arg418Leu
  • NP_001161091.1:p.Arg418Leu
  • NP_001245202.1:p.Arg418Leu
  • NP_001245203.1:p.Arg418Leu
  • NP_001341544.1:p.Arg418Leu
  • NP_001341545.1:p.Arg418Leu
  • NP_001341546.1:p.Arg418Leu
  • NP_001341547.1:p.Arg418Leu
  • NP_001341548.1:p.Arg418Leu
  • NP_001341549.1:p.Arg561Leu
  • NP_001341550.1:p.Arg318Leu
  • NP_001341551.1:p.Arg318Leu
  • NP_001341552.1:p.Arg318Leu
  • NP_001341553.1:p.Arg301Leu
  • NP_001341554.1:p.Arg301Leu
  • NP_001341555.1:p.Arg301Leu
  • NP_001341556.1:p.Arg301Leu
  • NP_001341558.1:p.Arg626Leu
  • NP_001341559.1:p.Arg604Leu
  • LRG_216t1:c.1976G>T
  • LRG_216:g.60247G>T
  • LRG_216p1:p.Arg659Leu
  • NC_000003.11:g.37090087G>T
  • P40692:p.Arg659Leu
Protein change:
R301L
Links:
UniProtKB: P40692#VAR_012929; dbSNP: rs63749900
NCBI 1000 Genomes Browser:
rs63749900
Molecular consequence:
  • NM_001258271.2:c.1896+913G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.2:c.1897-308G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.3:c.1976G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000249.4:c.1976G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167617.3:c.1682G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167618.3:c.1253G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167619.3:c.1253G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258273.2:c.1253G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258274.3:c.1253G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354615.2:c.1253G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354616.2:c.1253G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354617.2:c.1253G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354618.2:c.1253G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354619.2:c.1253G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354620.2:c.1682G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354621.2:c.953G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354622.2:c.953G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354623.2:c.953G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354624.2:c.902G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354625.2:c.902G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354626.2:c.902G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354627.2:c.902G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.1877G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.1811G>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
SCV000106446International Society for Gastrointestinal Hereditary Tumours (InSiGHT)reviewed by expert panel
Pathogenic
(Sep 5, 2013)
germlineresearch

Citation Link

Description

SCV000106446

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), SCV000106446.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Multifactorial likelihood analysis posterior probability >0.99

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

Last Updated: Oct 25, 2021

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