NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 10, 2022
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:: RCV000215890.8

Allele description [Variation Report for NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)]

NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)

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.1858G>A (p.Gly620Ser)

HGVS:

NC_000002.12:g.47799841G>A
NG_007111.1:g.21695G>A
NM_000179.3:c.1858G>AMANE SELECT
NM_001281492.2:c.1468G>A
NM_001281493.2:c.952G>A
NM_001281494.2:c.952G>A
NP_000170.1:p.Gly620Ser
NP_000170.1:p.Gly620Ser
NP_001268421.1:p.Gly490Ser
NP_001268422.1:p.Gly318Ser
NP_001268423.1:p.Gly318Ser
LRG_219t1:c.1858G>A
LRG_219:g.21695G>A
LRG_219p1:p.Gly620Ser
NC_000002.11:g.48026980G>A
NM_000179.2:c.1858G>A

Protein change:

G318S

Links:

dbSNP: rs876661043

NCBI 1000 Genomes Browser:

rs876661043

Molecular consequence:

NM_000179.3:c.1858G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000279329	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 10, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000279329

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 10, 2022)

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, SCV000279329.13

#	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 a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with pancreatic cancer, Lynch syndrome-associated cancers, and/or polyps (Yurgelun et al., 2015; Chaffee et al., 2018); This variant is associated with the following publications: (PMID: 25980754, 28726808, 21120944, 17531815)

#	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

ClinVar

Relating variation to medicine