NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp) AND not specified

Germline classification:: not provided (1 submission)
Last evaluated:: Sep 19, 2013
Review status:: no classification provided

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:: RCV000121580.2

Allele description [Variation Report for NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp)]

NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp)

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.1995G>C (p.Glu665Asp)

HGVS:

NC_000002.12:g.47799978G>C
NG_007111.1:g.21832G>C
NM_000179.3:c.1995G>CMANE SELECT
NM_001281492.2:c.1605G>C
NM_001281493.2:c.1089G>C
NM_001281494.2:c.1089G>C
NP_000170.1:p.Glu665Asp
NP_000170.1:p.Glu665Asp
NP_001268421.1:p.Glu535Asp
NP_001268422.1:p.Glu363Asp
NP_001268423.1:p.Glu363Asp
LRG_219t1:c.1995G>C
LRG_219:g.21832G>C
LRG_219p1:p.Glu665Asp
NC_000002.11:g.48027117G>C
NM_000179.2:c.1995G>C

Protein change:

E363D

Links:

dbSNP: rs587778532

NCBI 1000 Genomes Browser:

rs587778532

Molecular consequence:

NM_000179.3:c.1995G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1605G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1089G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1089G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Chomelia kirkbridei (2)
Taxonomy
PREDICTED: Mus musculus glutamate receptor, ionotropic, kainate 4 (Grik4), trans...
PREDICTED: Mus musculus glutamate receptor, ionotropic, kainate 4 (Grik4), transcript variant X2, mRNA
gi|1039791944|ref|XM_006509941.3|

Nucleotide
Profile neighbors for GEO Profiles (Select 60691026) (199)
GEO Profiles
RefSeq RNA Links for Gene (Select 315135) (4)
Nucleotide
Taxonomy Links for Nucleotide (Select 2302519985) (1)
Taxonomy

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
SCV000085776	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000085776

ITMI

no classification provided

not provided

germline

reference population

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
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

Details of each submission

From ITMI, SCV000085776.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0.0015	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0007	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine