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NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 6, 2023
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:
RCV003335062.2

Allele description [Variation Report for NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)]

NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)

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.218T>G (p.Leu73Arg)
HGVS:
  • NC_000003.12:g.37000965T>G
  • NG_007109.2:g.12616T>G
  • NM_000249.4:c.218T>GMANE SELECT
  • NM_001167617.3:c.-72T>G
  • NM_001167618.3:c.-506T>G
  • NM_001167619.3:c.-414T>G
  • NM_001258271.2:c.218T>G
  • NM_001258273.2:c.-506T>G
  • NM_001258274.3:c.-506T>G
  • NM_001354615.2:c.-409T>G
  • NM_001354616.2:c.-414T>G
  • NM_001354617.2:c.-506T>G
  • NM_001354618.2:c.-506T>G
  • NM_001354619.2:c.-506T>G
  • NM_001354620.2:c.-72T>G
  • NM_001354621.2:c.-599T>G
  • NM_001354622.2:c.-712T>G
  • NM_001354623.2:c.-712T>G
  • NM_001354624.2:c.-609T>G
  • NM_001354625.2:c.-512T>G
  • NM_001354626.2:c.-609T>G
  • NM_001354627.2:c.-609T>G
  • NM_001354628.2:c.218T>G
  • NM_001354629.2:c.208-3436T>G
  • NM_001354630.2:c.218T>G
  • NP_000240.1:p.Leu73Arg
  • NP_000240.1:p.Leu73Arg
  • NP_001245200.1:p.Leu73Arg
  • NP_001341557.1:p.Leu73Arg
  • NP_001341559.1:p.Leu73Arg
  • LRG_216t1:c.218T>G
  • LRG_216:g.12616T>G
  • LRG_216p1:p.Leu73Arg
  • NC_000003.11:g.37042456T>G
  • NM_000249.3:c.218T>G
Protein change:
L73R; LEU73ARG
Links:
OMIM: 120436.0034; dbSNP: rs397514684
NCBI 1000 Genomes Browser:
rs397514684
Molecular consequence:
  • NM_001167617.3:c.-72T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-506T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-414T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-506T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-506T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-409T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-414T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-506T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-506T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-506T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-72T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-599T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-712T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-712T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-609T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-512T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-609T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-609T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354629.2:c.208-3436T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Colorectal cancer, hereditary nonpolyposis, type 2 (LYNCH2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Lynch syndrome II; 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004043221Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Oct 6, 2023) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, Nicholls W, Offerhaus J, Bodmer D, Wernstedt A, Krabichler B, Strasser U, Nyström M, Zschocke J, Robertson SP, van Haelst MM, Wimmer K.

Eur J Hum Genet. 2013 Jan;21(1):55-61. doi: 10.1038/ejhg.2012.117. Epub 2012 Jun 13.

PubMed [citation]
PMID:
22692065
PMCID:
PMC3522206

Details of each submission

From Myriad Genetics, Inc., SCV004043221.2

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

Description

This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 22692065]. This variant is expected to disrupt protein structure [Myriad internal data]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 22692065].

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

Last Updated: Oct 26, 2024