NM_000249.4(MLH1):c.355A>G (p.Thr119Ala) AND Lynch syndrome II

Clinical significance:Likely pathogenic (Last evaluated: May 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001170063.2

Allele description [Variation Report for NM_000249.4(MLH1):c.355A>G (p.Thr119Ala)]

NM_000249.4(MLH1):c.355A>G (p.Thr119Ala)

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.355A>G (p.Thr119Ala)
HGVS:
  • NC_000003.12:g.37004449A>G
  • NG_007109.2:g.16100A>G
  • NM_000249.4:c.355A>GMANE SELECT
  • NM_001167617.3:c.61A>G
  • NM_001167618.3:c.-369A>G
  • NM_001167619.3:c.-277A>G
  • NM_001258271.2:c.355A>G
  • NM_001258273.2:c.-369A>G
  • NM_001258274.3:c.-369A>G
  • NM_001354615.2:c.-277A>G
  • NM_001354616.2:c.-277A>G
  • NM_001354617.2:c.-369A>G
  • NM_001354618.2:c.-369A>G
  • NM_001354619.2:c.-369A>G
  • NM_001354620.2:c.61A>G
  • NM_001354621.2:c.-462A>G
  • NM_001354622.2:c.-575A>G
  • NM_001354623.2:c.-575A>G
  • NM_001354624.2:c.-472A>G
  • NM_001354625.2:c.-380A>G
  • NM_001354626.2:c.-472A>G
  • NM_001354627.2:c.-472A>G
  • NM_001354628.2:c.355A>G
  • NM_001354629.2:c.256A>G
  • NM_001354630.2:c.355A>G
  • NP_000240.1:p.Thr119Ala
  • NP_001161089.1:p.Thr21Ala
  • NP_001245200.1:p.Thr119Ala
  • NP_001341549.1:p.Thr21Ala
  • NP_001341557.1:p.Thr119Ala
  • NP_001341558.1:p.Thr86Ala
  • NP_001341559.1:p.Thr119Ala
  • LRG_216t1:c.355A>G
  • LRG_216:g.16100A>G
  • NC_000003.11:g.37045940A>G
  • NM_000249.3:c.355A>G
Protein change:
T119A
Links:
dbSNP: rs977932120
NCBI 1000 Genomes Browser:
rs977932120
Molecular consequence:
  • NM_001167618.3:c.-369A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-277A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-369A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-369A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-277A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-277A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-369A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-369A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-369A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-462A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-575A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-575A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-472A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-380A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-472A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-472A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167617.3:c.61A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354620.2:c.61A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.256A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome II (HNPCC2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; MLH1-Related Hereditary Non-Polyposis Colon Cancer; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001251947Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Likely pathogenic
(May 3, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

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 Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV001251947.1

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

Last Updated: Nov 27, 2021

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