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NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Muir-Torré syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 21, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003137535.1

Allele description [Variation Report for NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)]

NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)

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.676C>T (p.Arg226Ter)
Other names:
p.R226*:CGA>TGA
HGVS:
  • NC_000003.12:g.37012098C>T
  • NG_007109.2:g.23749C>T
  • NM_000249.4:c.676C>TMANE SELECT
  • NM_001167617.3:c.382C>T
  • NM_001167618.3:c.-48C>T
  • NM_001167619.3:c.-48C>T
  • NM_001258271.2:c.676C>T
  • NM_001258273.2:c.-48C>T
  • NM_001258274.3:c.-48C>T
  • NM_001354615.2:c.-48C>T
  • NM_001354616.2:c.-48C>T
  • NM_001354617.2:c.-48C>T
  • NM_001354618.2:c.-48C>T
  • NM_001354619.2:c.-48C>T
  • NM_001354620.2:c.382C>T
  • NM_001354621.2:c.-141C>T
  • NM_001354622.2:c.-254C>T
  • NM_001354623.2:c.-254C>T
  • NM_001354624.2:c.-151C>T
  • NM_001354625.2:c.-151C>T
  • NM_001354626.2:c.-151C>T
  • NM_001354627.2:c.-151C>T
  • NM_001354628.2:c.676C>T
  • NM_001354629.2:c.577C>T
  • NM_001354630.2:c.676C>T
  • NP_000240.1:p.Arg226Ter
  • NP_000240.1:p.Arg226Ter
  • NP_001161089.1:p.Arg128Ter
  • NP_001245200.1:p.Arg226Ter
  • NP_001341549.1:p.Arg128Ter
  • NP_001341557.1:p.Arg226Ter
  • NP_001341558.1:p.Arg193Ter
  • NP_001341559.1:p.Arg226Ter
  • LRG_216t1:c.676C>T
  • LRG_216:g.23749C>T
  • LRG_216p1:p.Arg226Ter
  • NC_000003.11:g.37053589C>T
  • NM_000249.3:c.676C>T
  • NM_001167617.1:c.382C>T
  • p.Arg226*
  • p.Arg226Stop
  • p.R226*
Protein change:
R128*; ARG226TER
Links:
OMIM: 120436.0010; dbSNP: rs63751615
NCBI 1000 Genomes Browser:
rs63751615
Molecular consequence:
  • NM_001167618.3:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-141C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-254C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-254C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-151C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-151C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-151C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-151C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167617.3:c.382C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258271.2:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354620.2:c.382C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354628.2:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354629.2:c.577C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354630.2:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Muir-Torré syndrome (MRTES)
Synonyms:
Muir-Torre syndrome; Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; MSH2-Related Muir-Torre Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008018; MedGen: C1321489; Orphanet: 587; OMIM: 158320

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003807079Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 21, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807079.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderated

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024