NM_000179.3(MSH6):c.2383A>G (p.Ile795Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 13, 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:: RCV001811026.13

Allele description [Variation Report for NM_000179.3(MSH6):c.2383A>G (p.Ile795Val)]

NM_000179.3(MSH6):c.2383A>G (p.Ile795Val)

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.2383A>G (p.Ile795Val)

HGVS:

NC_000002.12:g.47800366A>G
NG_007111.1:g.22220A>G
NM_000179.3:c.2383A>GMANE SELECT
NM_001281492.2:c.1993A>G
NM_001281493.2:c.1477A>G
NM_001281494.2:c.1477A>G
NP_000170.1:p.Ile795Val
NP_000170.1:p.Ile795Val
NP_001268421.1:p.Ile665Val
NP_001268422.1:p.Ile493Val
NP_001268423.1:p.Ile493Val
LRG_219t1:c.2383A>G
LRG_219:g.22220A>G
LRG_219p1:p.Ile795Val
NC_000002.11:g.48027505A>G
NM_000179.2:c.2383A>G

Protein change:

I493V

Links:

dbSNP: rs865931684

NCBI 1000 Genomes Browser:

rs865931684

Molecular consequence:

NM_000179.3:c.2383A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1993A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1477A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1477A>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
SCV002048060	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Uncertain significance (Sep 13, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002048060

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Uncertain significance
(Sep 13, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048060.1

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

Description

The MSH6 c.2383A>G; p.Ile795Val variant (rs865931684), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 455195). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The isoleucine at codon 795 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.268). Another amino acid substitutions at this codon (p.Ile795Thr) has been reported in an individual affected with pancreatic cancer, although its clinical significance was considered uncertain (Shindo 2017). Due to limited information, the clinical significance of the p.Ile795Val variant is uncertain at this time. References: Shindo K et al. Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. J Clin Oncol. 2017 Oct 20;35(30):3382-3390. PMID: 28767289.

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine