U.S. flag

An official website of the United States government

NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) AND Lynch syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 13, 2018
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:
RCV000490565.3

Allele description [Variation Report for NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)]

NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)

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.244A>G (p.Thr82Ala)
HGVS:
  • NC_000003.12:g.37000991A>G
  • NG_007109.2:g.12642A>G
  • NM_000249.4:c.244A>GMANE SELECT
  • NM_001167617.3:c.-46A>G
  • NM_001167618.3:c.-480A>G
  • NM_001167619.3:c.-388A>G
  • NM_001258271.2:c.244A>G
  • NM_001258273.2:c.-480A>G
  • NM_001258274.3:c.-480A>G
  • NM_001354615.2:c.-383A>G
  • NM_001354616.2:c.-388A>G
  • NM_001354617.2:c.-480A>G
  • NM_001354618.2:c.-480A>G
  • NM_001354619.2:c.-480A>G
  • NM_001354620.2:c.-46A>G
  • NM_001354621.2:c.-573A>G
  • NM_001354622.2:c.-686A>G
  • NM_001354623.2:c.-686A>G
  • NM_001354624.2:c.-583A>G
  • NM_001354625.2:c.-486A>G
  • NM_001354626.2:c.-583A>G
  • NM_001354627.2:c.-583A>G
  • NM_001354628.2:c.244A>G
  • NM_001354629.2:c.208-3410A>G
  • NM_001354630.2:c.244A>G
  • NP_000240.1:p.Thr82Ala
  • NP_000240.1:p.Thr82Ala
  • NP_001245200.1:p.Thr82Ala
  • NP_001341557.1:p.Thr82Ala
  • NP_001341559.1:p.Thr82Ala
  • LRG_216t1:c.244A>G
  • LRG_216:g.12642A>G
  • LRG_216p1:p.Thr82Ala
  • NC_000003.11:g.37042482A>G
  • NM_000249.3:c.244A>G
  • NM_001167617.1:c.-46A>G
  • p.T82A
Protein change:
T82A
Links:
dbSNP: rs587778998
NCBI 1000 Genomes Browser:
rs587778998
Molecular consequence:
  • NM_001167617.3:c.-46A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-480A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-388A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-480A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-480A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-383A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-388A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-480A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-480A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-480A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-46A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-573A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-686A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-686A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-583A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-486A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-583A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-583A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354629.2:c.208-3410A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.244A>G - 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
SCV000106599International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v2.4)		Likely pathogenic
(Jun 13, 2018) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000106599.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant reclassification due to new tumour Likelihood Ratios: Multifactorial likelihood analysis posterior probability > 0.95 (0.965)

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

Last Updated: Nov 18, 2024