NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 21, 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:: RCV000588498.3

Allele description [Variation Report for NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg)]

NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg)

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.2693C>G (p.Pro898Arg)

HGVS:

NC_000002.12:g.47800676C>G
NG_007111.1:g.22530C>G
NM_000179.3:c.2693C>GMANE SELECT
NM_001281492.2:c.2303C>G
NM_001281493.2:c.1787C>G
NM_001281494.2:c.1787C>G
NP_000170.1:p.Pro898Arg
NP_000170.1:p.Pro898Arg
NP_001268421.1:p.Pro768Arg
NP_001268422.1:p.Pro596Arg
NP_001268423.1:p.Pro596Arg
LRG_219t1:c.2693C>G
LRG_219:g.22530C>G
LRG_219p1:p.Pro898Arg
NC_000002.11:g.48027815C>G
NM_000179.2:c.2693C>G

Protein change:

P596R

Links:

dbSNP: rs876661281

NCBI 1000 Genomes Browser:

rs876661281

Molecular consequence:

NM_000179.3:c.2693C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.2303C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1787C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1787C>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
SCV000279981	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Dec 21, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000279981

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Dec 21, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000279981.9

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

Description

This variant is denoted MSH6 c.2693C>G at the cDNA level, p.Pro898Arg (P898R) at the protein level, and results in the change of a Proline to an Arginine (CCT>CGT). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. MSH6 Pro898Arg was not observed in large population cohorts (Lek 2016). MSH6 Pro898Arg is located in the lever domain (Warren 2007, Kansikas 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether MSH6 Pro898Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#	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: Apr 20, 2024

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