NM_000179.3(MSH6):c.2320C>G (p.Leu774Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 12, 2024
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:: RCV001589090.4

Allele description [Variation Report for NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)]

NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)

HGVS:

NC_000002.12:g.47800303C>G
NG_007111.1:g.22157C>G
NM_000179.3:c.2320C>GMANE SELECT
NM_001281492.2:c.1930C>G
NM_001281493.2:c.1414C>G
NM_001281494.2:c.1414C>G
NP_000170.1:p.Leu774Val
NP_000170.1:p.Leu774Val
NP_001268421.1:p.Leu644Val
NP_001268422.1:p.Leu472Val
NP_001268423.1:p.Leu472Val
LRG_219t1:c.2320C>G
LRG_219:g.22157C>G
LRG_219p1:p.Leu774Val
NC_000002.11:g.48027442C>G
NM_000179.2:c.2320C>G

Protein change:

L472V

Links:

dbSNP: rs864622324

NCBI 1000 Genomes Browser:

rs864622324

Molecular consequence:

NM_000179.3:c.2320C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1930C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1414C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1414C>G - 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
SCV001825717	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 12, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001825717

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 12, 2024)

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, SCV001825717.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has 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: 17531815, 21120944)

#	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: Oct 8, 2024

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