NM_000249.4(MLH1):c.726G>A (p.Met242Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 27, 2018
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:: RCV000756340.8

Allele description [Variation Report for NM_000249.4(MLH1):c.726G>A (p.Met242Ile)]

NM_000249.4(MLH1):c.726G>A (p.Met242Ile)

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.726G>A (p.Met242Ile)

HGVS:

NC_000003.12:g.37014480G>A
NG_007109.2:g.26131G>A
NM_000249.4:c.726G>AMANE SELECT
NM_001167617.3:c.432G>A
NM_001167618.3:c.3G>A
NM_001167619.3:c.3G>A
NM_001258271.2:c.726G>A
NM_001258273.2:c.3G>A
NM_001258274.3:c.3G>A
NM_001354615.2:c.3G>A
NM_001354616.2:c.3G>A
NM_001354617.2:c.3G>A
NM_001354618.2:c.3G>A
NM_001354619.2:c.3G>A
NM_001354620.2:c.432G>A
NM_001354621.2:c.-140+2381G>A
NM_001354622.2:c.-204G>A
NM_001354623.2:c.-204G>A
NM_001354624.2:c.-101G>A
NM_001354625.2:c.-101G>A
NM_001354626.2:c.-101G>A
NM_001354627.2:c.-101G>A
NM_001354628.2:c.726G>A
NM_001354629.2:c.627G>A
NM_001354630.2:c.726G>A
NP_000240.1:p.Met242Ile
NP_000240.1:p.Met242Ile
NP_001161089.1:p.Met144Ile
NP_001161090.1:p.Met1Ile
NP_001161091.1:p.Met1Ile
NP_001245200.1:p.Met242Ile
NP_001245202.1:p.Met1Ile
NP_001245203.1:p.Met1Ile
NP_001341544.1:p.Met1Ile
NP_001341545.1:p.Met1Ile
NP_001341546.1:p.Met1Ile
NP_001341547.1:p.Met1Ile
NP_001341548.1:p.Met1Ile
NP_001341549.1:p.Met144Ile
NP_001341557.1:p.Met242Ile
NP_001341558.1:p.Met209Ile
NP_001341559.1:p.Met242Ile
LRG_216t1:c.726G>A
LRG_216:g.26131G>A
LRG_216p1:p.Met242Ile
NC_000003.11:g.37055971G>A
NM_000249.3:c.726G>A

Protein change:

M144I

Links:

dbSNP: rs1559534445

NCBI 1000 Genomes Browser:

rs1559534445

Molecular consequence:

NM_001354622.2:c.-204G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-204G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-101G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-101G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-101G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-101G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001167619.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001258273.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001258274.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001354615.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001354616.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001354617.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001354618.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001354619.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001354621.2:c.-140+2381G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000249.4:c.726G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167617.3:c.432G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167618.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167619.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258271.2:c.726G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258273.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258274.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354615.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354616.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354617.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354618.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354619.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354620.2:c.432G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354628.2:c.726G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354629.2:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354630.2:c.726G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000884119	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Jun 27, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000884119

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Jun 27, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884119.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The MLH1 c.726G>A; p.Met242Ile variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The methionine at codon 242 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of the p.Met242Ile variant is uncertain at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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