NM_000249.4(MLH1):c.2172_2173delinsAG (p.Arg725Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 22, 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:: RCV000480782.2

Allele description [Variation Report for NM_000249.4(MLH1):c.2172_2173delinsAG (p.Arg725Gly)]

NM_000249.4(MLH1):c.2172_2173delinsAG (p.Arg725Gly)

Gene:

MLH1:mutL homolog 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.2172_2173delinsAG (p.Arg725Gly)

HGVS:

NC_000003.12:g.37050554_37050555delinsAG
NG_007109.2:g.62205_62206delinsAG
NM_000249.4:c.2172_2173delinsAGMANE SELECT
NM_001167617.3:c.1878_1879delinsAG
NM_001167618.3:c.1449_1450delinsAG
NM_001167619.3:c.1449_1450delinsAG
NM_001258271.2:c.1965_1966delinsAG
NM_001258273.2:c.1449_1450delinsAG
NM_001258274.3:c.1449_1450delinsAG
NM_001354615.2:c.1449_1450delinsAG
NM_001354616.2:c.1449_1450delinsAG
NM_001354617.2:c.1449_1450delinsAG
NM_001354618.2:c.1449_1450delinsAG
NM_001354619.2:c.1449_1450delinsAG
NM_001354620.2:c.1878_1879delinsAG
NM_001354621.2:c.1149_1150delinsAG
NM_001354622.2:c.1149_1150delinsAG
NM_001354623.2:c.1149_1150delinsAG
NM_001354624.2:c.1098_1099delinsAG
NM_001354625.2:c.1098_1099delinsAG
NM_001354626.2:c.1098_1099delinsAG
NM_001354627.2:c.1098_1099delinsAG
NM_001354628.2:c.2079_2080delinsAG
NM_001354629.2:c.2073_2074delinsAG
NM_001354630.2:c.2007_2008delinsAG
NP_000240.1:p.Arg725Gly
NP_000240.1:p.Arg725Gly
NP_001161089.1:p.Arg627Gly
NP_001161090.1:p.Arg484Gly
NP_001161091.1:p.Arg484Gly
NP_001245200.1:p.Arg656Gly
NP_001245202.1:p.Arg484Gly
NP_001245203.1:p.Arg484Gly
NP_001341544.1:p.Arg484Gly
NP_001341545.1:p.Arg484Gly
NP_001341546.1:p.Arg484Gly
NP_001341547.1:p.Arg484Gly
NP_001341548.1:p.Arg484Gly
NP_001341549.1:p.Arg627Gly
NP_001341550.1:p.Arg384Gly
NP_001341551.1:p.Arg384Gly
NP_001341552.1:p.Arg384Gly
NP_001341553.1:p.Arg367Gly
NP_001341554.1:p.Arg367Gly
NP_001341555.1:p.Arg367Gly
NP_001341556.1:p.Arg367Gly
NP_001341557.1:p.Arg694Gly
NP_001341558.1:p.Arg692Gly
NP_001341559.1:p.Arg670Gly
LRG_216t1:c.2172_2173delinsAG
LRG_216:g.62205_62206delinsAG
LRG_216p1:p.Arg725Gly
NC_000003.11:g.37092045_37092046delinsAG
NM_000249.3:c.2172_2173delGCinsAG
NM_000249.3:c.2172_2173delinsAG
p.R725G

Protein change:

R367G

Links:

dbSNP: rs786203433

NCBI 1000 Genomes Browser:

rs786203433

Molecular consequence:

NM_000249.4:c.2172_2173delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001167617.3:c.1878_1879delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001167618.3:c.1449_1450delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001167619.3:c.1449_1450delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001258271.2:c.1965_1966delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001258273.2:c.1449_1450delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001258274.3:c.1449_1450delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354615.2:c.1449_1450delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354616.2:c.1449_1450delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354617.2:c.1449_1450delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354618.2:c.1449_1450delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354619.2:c.1449_1450delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354620.2:c.1878_1879delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354621.2:c.1149_1150delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354622.2:c.1149_1150delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354623.2:c.1149_1150delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354624.2:c.1098_1099delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354625.2:c.1098_1099delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354626.2:c.1098_1099delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354627.2:c.1098_1099delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354628.2:c.2079_2080delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354629.2:c.2073_2074delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001354630.2:c.2007_2008delinsAG - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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LOC127884633 [Homo sapiens]
LOC127884633 [Homo sapiens]
Gene ID:127884633

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000568075	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 22, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000568075

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 22, 2021)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000568075.5

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25503501)

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

Last Updated: Sep 29, 2024

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