U.S. flag

An official website of the United States government

NM_000249.4(MLH1):c.62C>T (p.Ala21Val) AND Lynch syndrome 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 24, 2015
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:
RCV000075787.6

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:
Lynch syndrome 1
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000106797International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v1.9)		Pathogenic
(Nov 24, 2015) 		germlineresearch

Citation Link,

SCV001499795Department of Molecular Diagnostics, Institute of Oncology Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 2, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000106797.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Department of Molecular Diagnostics, Institute of Oncology Ljubljana, SCV001499795.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024