NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) AND Breast and/or ovarian cancer

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 30, 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:: RCV003492420.1

Allele description [Variation Report for NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)]

NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)

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.974G>A (p.Arg325Gln)

HGVS:

NC_000003.12:g.37020399G>A
NG_007109.2:g.32050G>A
NM_000249.4:c.974G>AMANE SELECT
NM_001167617.3:c.680G>A
NM_001167618.3:c.251G>A
NM_001167619.3:c.251G>A
NM_001258271.2:c.974G>A
NM_001258273.2:c.251G>A
NM_001258274.3:c.251G>A
NM_001354615.2:c.251G>A
NM_001354616.2:c.251G>A
NM_001354617.2:c.251G>A
NM_001354618.2:c.251G>A
NM_001354619.2:c.251G>A
NM_001354620.2:c.680G>A
NM_001354621.2:c.-50G>A
NM_001354622.2:c.-50G>A
NM_001354623.2:c.-50G>A
NM_001354624.2:c.-36-5238G>A
NM_001354625.2:c.-36-5238G>A
NM_001354626.2:c.-36-5238G>A
NM_001354627.2:c.-36-5238G>A
NM_001354628.2:c.974G>A
NM_001354629.2:c.875G>A
NM_001354630.2:c.974G>A
NP_000240.1:p.Arg325Gln
NP_000240.1:p.Arg325Gln
NP_001161089.1:p.Arg227Gln
NP_001161090.1:p.Arg84Gln
NP_001161091.1:p.Arg84Gln
NP_001245200.1:p.Arg325Gln
NP_001245202.1:p.Arg84Gln
NP_001245203.1:p.Arg84Gln
NP_001341544.1:p.Arg84Gln
NP_001341545.1:p.Arg84Gln
NP_001341546.1:p.Arg84Gln
NP_001341547.1:p.Arg84Gln
NP_001341548.1:p.Arg84Gln
NP_001341549.1:p.Arg227Gln
NP_001341557.1:p.Arg325Gln
NP_001341558.1:p.Arg292Gln
NP_001341559.1:p.Arg325Gln
LRG_216t1:c.974G>A
LRG_216:g.32050G>A
LRG_216p1:p.Arg325Gln
NC_000003.11:g.37061890G>A
NM_000249.3:c.974G>A
P40692:p.Arg325Gln
p.R325Q

Protein change:

R227Q

Links:

UniProtKB: P40692#VAR_012917; dbSNP: rs63750268

NCBI 1000 Genomes Browser:

rs63750268

Molecular consequence:

NM_001354621.2:c.-50G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-50G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-50G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-36-5238G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.-36-5238G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354626.2:c.-36-5238G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354627.2:c.-36-5238G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000249.4:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167617.3:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167618.3:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167619.3:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258271.2:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258273.2:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258274.3:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354615.2:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354616.2:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354617.2:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354618.2:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354619.2:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354620.2:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354628.2:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354629.2:c.875G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354630.2:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004239268	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Mar 30, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004239268

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Mar 30, 2023)

germline

clinical testing

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

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

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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV004239268.1

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

#	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: May 19, 2024

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