NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 1, 2021
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:: RCV000524326.9

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000601420	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Oct 1, 2021)	unknown	clinical testing	PubMed (10) [See all records that cite these PMIDs] 24953332, 31391288, 31784484, 33471991, 10793088, 9087566, 22736432, 18383312, 22949387, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000601420

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Oct 1, 2021)

unknown

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.

Castillejo A, Vargas G, Castillejo MI, Navarro M, Barberá VM, González S, Hernández-Illán E, Brunet J, Ramón y Cajal T, Balmaña J, Oltra S, Iglesias S, Velasco A, Solanes A, Campos O, Sánchez Heras AB, Gallego J, Carrasco E, González Juan D, Segura A, Chirivella I, Juan MJ, et al.

Eur J Cancer. 2014 Sep;50(13):2241-50. doi: 10.1016/j.ejca.2014.05.022. Epub 2014 Jun 18.

PubMed [citation]

PMID:: 24953332

Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.

Li S, Qian D, Thompson BA, Gutierrez S, Wu S, Pesaran T, LaDuca H, Lu HM, Chao EC, Black MH.

J Med Genet. 2020 Jan;57(1):62-69. doi: 10.1136/jmedgenet-2019-106096. Epub 2019 Aug 7.

PubMed [citation]

PMID:: 31391288

See all PubMed Citations (10)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601420.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

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

Last Updated: Jul 15, 2024

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