NM_000179.3(MSH6):c.3974A>G (p.Lys1325Arg) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 25, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000588179.7

Allele description

NM_000179.3(MSH6):c.3974A>G (p.Lys1325Arg)

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.3974A>G (p.Lys1325Arg)

HGVS:

NC_000002.12:g.47806624A>G
NG_007111.1:g.28478A>G
NG_008397.1:g.104052T>C
NM_000179.3:c.3974A>GMANE SELECT
NM_001281492.2:c.3584A>G
NM_001281493.2:c.3068A>G
NM_001281494.2:c.3068A>G
NP_000170.1:p.Lys1325Arg
NP_000170.1:p.Lys1325Arg
NP_001268421.1:p.Lys1195Arg
NP_001268422.1:p.Lys1023Arg
NP_001268423.1:p.Lys1023Arg
LRG_219t1:c.3974A>G
LRG_219:g.28478A>G
LRG_219p1:p.Lys1325Arg
NC_000002.11:g.48033763A>G
NM_000179.2:c.3974A>G

Protein change:

K1023R

Links:

dbSNP: rs876658189

NCBI 1000 Genomes Browser:

rs876658189

Molecular consequence:

NM_000179.3:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.3584A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.3068A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.3068A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens mRNA; cDNA DKFZp566N2024 (from clone DKFZp566N2024)
Homo sapiens mRNA; cDNA DKFZp566N2024 (from clone DKFZp566N2024)
gi|12052937|emb|AL136709.1|

Nucleotide
wa83h03.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2302805 3', mRNA se...
wa83h03.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2302805 3', mRNA sequence
gi|4899435|gnl|dbEST|2587918|gb|AI6 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000568972	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 25, 2022)	germline	clinical testing	Citation Link,
SCV001134449	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Jun 20, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000568972

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 25, 2022)

germline

clinical testing

Citation Link,

SCV001134449

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Jun 20, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000568972.7

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17531815, 21120944, 12019211)

#	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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134449.2

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

#	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: May 7, 2024

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