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NM_000249.4(MLH1):c.86C>G (p.Ala29Gly) AND Lynch syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 5, 2013
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000075896.4

Allele description [Variation Report for NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)]

NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)

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.86C>G (p.Ala29Gly)
HGVS:
  • NC_000003.12:g.36993633C>G
  • NG_007109.2:g.5284C>G
  • NG_008418.1:g.4672G>C
  • NM_000249.4:c.86C>GMANE SELECT
  • NM_001167617.3:c.-431C>G
  • NM_001167618.3:c.-860C>G
  • NM_001167619.3:c.-773C>G
  • NM_001258271.2:c.86C>G
  • NM_001258273.2:c.-547C>G
  • NM_001258274.3:c.-1010C>G
  • NM_001354615.2:c.-541C>G
  • NM_001354616.2:c.-541C>G
  • NM_001354617.2:c.-633C>G
  • NM_001354618.2:c.-865C>G
  • NM_001354619.2:c.-989C>G
  • NM_001354620.2:c.-199C>G
  • NM_001354621.2:c.-958C>G
  • NM_001354622.2:c.-1071C>G
  • NM_001354623.2:c.-980C>G
  • NM_001354624.2:c.-741C>G
  • NM_001354625.2:c.-639C>G
  • NM_001354626.2:c.-736C>G
  • NM_001354627.2:c.-968C>G
  • NM_001354628.2:c.86C>G
  • NM_001354629.2:c.86C>G
  • NM_001354630.2:c.86C>G
  • NP_000240.1:p.Ala29Gly
  • NP_000240.1:p.Ala29Gly
  • NP_001245200.1:p.Ala29Gly
  • NP_001341557.1:p.Ala29Gly
  • NP_001341558.1:p.Ala29Gly
  • NP_001341559.1:p.Ala29Gly
  • LRG_216t1:c.86C>G
  • LRG_216:g.5284C>G
  • LRG_216p1:p.Ala29Gly
  • NC_000003.11:g.37035124C>G
  • NM_000249.3:c.86C>G
Protein change:
A29G
Links:
dbSNP: rs63750216
NCBI 1000 Genomes Browser:
rs63750216
Molecular consequence:
  • NM_001167617.3:c.-431C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-860C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-773C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-547C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-1010C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-541C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-541C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-633C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-865C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-989C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-199C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-958C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-1071C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-980C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-741C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-639C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-736C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-968C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.86C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.86C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.86C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.86C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.86C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000106912International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v1.9)		Pathogenic
(Sep 5, 2013) 		germlineresearch

Citation Link

Help

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), SCV000106912.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Variant causes splicing aberrations: full inactivation of variant allele. In-frame transcript interrupts ATPase domain.

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

Last Updated: Sep 29, 2024