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NM_000249.4(MLH1):c.121G>C (p.Asp41His) AND Lynch syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 10, 2014
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:
RCV000075155.2

Allele description [Variation Report for NM_000249.4(MLH1):c.121G>C (p.Asp41His)]

NM_000249.4(MLH1):c.121G>C (p.Asp41His)

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.121G>C (p.Asp41His)
HGVS:
  • NC_000003.12:g.36996623G>C
  • NG_007109.2:g.8274G>C
  • NG_008418.1:g.1682C>G
  • NM_000249.4:c.121G>CMANE SELECT
  • NM_001167617.3:c.-169G>C
  • NM_001167618.3:c.-602-1G>C
  • NM_001167619.3:c.-511G>C
  • NM_001258271.2:c.121G>C
  • NM_001258273.2:c.-517+2960G>C
  • NM_001258274.3:c.-748G>C
  • NM_001354615.2:c.-506G>C
  • NM_001354616.2:c.-510-1G>C
  • NM_001354617.2:c.-602-1G>C
  • NM_001354618.2:c.-603G>C
  • NM_001354619.2:c.-603G>C
  • NM_001354620.2:c.-168-1G>C
  • NM_001354621.2:c.-696G>C
  • NM_001354622.2:c.-809G>C
  • NM_001354623.2:c.-723+2733G>C
  • NM_001354624.2:c.-706G>C
  • NM_001354625.2:c.-608-1G>C
  • NM_001354626.2:c.-705-1G>C
  • NM_001354627.2:c.-706G>C
  • NM_001354628.2:c.121G>C
  • NM_001354629.2:c.121G>C
  • NM_001354630.2:c.121G>C
  • NP_000240.1:p.Asp41His
  • NP_000240.1:p.Asp41His
  • NP_001245200.1:p.Asp41His
  • NP_001341557.1:p.Asp41His
  • NP_001341558.1:p.Asp41His
  • NP_001341559.1:p.Asp41His
  • LRG_216t1:c.121G>C
  • LRG_216:g.8274G>C
  • LRG_216p1:p.Asp41His
  • NC_000003.11:g.37038114G>C
  • NM_000249.3:c.121G>C
  • P40692:p.Asp41His
Protein change:
D41H
Links:
UniProtKB: P40692#VAR_054522; dbSNP: rs267607713
NCBI 1000 Genomes Browser:
rs267607713
Molecular consequence:
  • NM_001167617.3:c.-169G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-511G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-748G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-506G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-603G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-603G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-696G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-809G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-706G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-706G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-517+2960G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-723+2733G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.121G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.121G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.121G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.121G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.121G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167618.3:c.-602-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354616.2:c.-510-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354617.2:c.-602-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354620.2:c.-168-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354625.2:c.-608-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354626.2:c.-705-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000106146International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v1.9)		Pathogenic
(Oct 10, 2014) 		germlineresearch

2013-08_InSiGHT_VIC_v1.9.pdf

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), SCV000106146.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Multifactorial likelihood analysis posterior probability >0.99

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

Last Updated: Sep 29, 2024