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NM_000249.4(MLH1):c.62C>T (p.Ala21Val) AND Gastric cancer

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003162488.2

Allele description [Variation Report for NM_000249.4(MLH1):c.62C>T (p.Ala21Val)]

NM_000249.4(MLH1):c.62C>T (p.Ala21Val)

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.62C>T (p.Ala21Val)
HGVS:
  • NC_000003.12:g.36993609C>T
  • NG_007109.2:g.5260C>T
  • NG_008418.1:g.4696G>A
  • NM_000249.4:c.62C>TMANE SELECT
  • NM_001167617.3:c.-455C>T
  • NM_001167618.3:c.-884C>T
  • NM_001167619.3:c.-797C>T
  • NM_001258271.2:c.62C>T
  • NM_001258273.2:c.-571C>T
  • NM_001258274.3:c.-1034C>T
  • NM_001354615.2:c.-565C>T
  • NM_001354616.2:c.-565C>T
  • NM_001354617.2:c.-657C>T
  • NM_001354618.2:c.-889C>T
  • NM_001354619.2:c.-1013C>T
  • NM_001354620.2:c.-223C>T
  • NM_001354621.2:c.-982C>T
  • NM_001354622.2:c.-1095C>T
  • NM_001354623.2:c.-1004C>T
  • NM_001354624.2:c.-765C>T
  • NM_001354625.2:c.-663C>T
  • NM_001354626.2:c.-760C>T
  • NM_001354627.2:c.-992C>T
  • NM_001354628.2:c.62C>T
  • NM_001354629.2:c.62C>T
  • NM_001354630.2:c.62C>T
  • NP_000240.1:p.Ala21Val
  • NP_000240.1:p.Ala21Val
  • NP_001245200.1:p.Ala21Val
  • NP_001341557.1:p.Ala21Val
  • NP_001341558.1:p.Ala21Val
  • NP_001341559.1:p.Ala21Val
  • LRG_216t1:c.62C>T
  • LRG_216:g.5260C>T
  • LRG_216p1:p.Ala21Val
  • NC_000003.11:g.37035100C>T
  • NM_000249.3:c.62C>T
  • P40692:p.Ala21Val
Protein change:
A21V
Links:
UniProtKB: P40692#VAR_043384; dbSNP: rs63750706
NCBI 1000 Genomes Browser:
rs63750706
Molecular consequence:
  • NM_001167617.3:c.-455C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-884C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-797C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-571C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-1034C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-565C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-565C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-657C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-889C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-1013C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-223C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-982C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-1095C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-1004C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-765C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-663C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-760C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-992C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gastric cancer
Synonyms:
Stomach cancer; Malignant tumor of stomach
Identifiers:
MONDO: MONDO:0001056; MeSH: D013274; MedGen: C0024623; OMIM: 613659; Human Phenotype Ontology: HP:0012126

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002758040Laboratory for Genotyping Development, RIKEN
no assertion criteria provided
Pathogenic
(Jul 1, 2021) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer.

Usui Y, Taniyama Y, Endo M, Koyanagi YN, Kasugai Y, Oze I, Ito H, Imoto I, Tanaka T, Tajika M, Niwa Y, Iwasaki Y, Aoi T, Hakozaki N, Takata S, Suzuki K, Terao C, Hatakeyama M, Hirata M, Sugano K, Yoshida T, Kamatani Y, et al.

N Engl J Med. 2023 Mar 30;388(13):1181-1190. doi: 10.1056/NEJMoa2211807.

PubMed [citation]
PMID:
36988593

Details of each submission

From Laboratory for Genotyping Development, RIKEN, SCV002758040.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024