NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 24, 2014
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:: RCV000222078.7

Allele description [Variation Report for NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn)]

NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn)

Gene:

OTOG:otogelin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn)

HGVS:

NC_000011.10:g.17645592G>C
NG_033191.2:g.103220G>C
NM_001277269.2:c.8526G>C
NM_001292063.2:c.8490G>CMANE SELECT
NP_001264198.1:p.Lys2842Asn
NP_001264198.1:p.Lys2842Asn
NP_001278992.1:p.Lys2830Asn
NC_000011.9:g.17667139G>C
NM_001277269.1:c.8526G>C
NM_001277269.2:c.[8526G>C]

Protein change:

K2830N

Links:

dbSNP: rs61997203

NCBI 1000 Genomes Browser:

rs61997203

Molecular consequence:

NM_001277269.2:c.8526G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001292063.2:c.8490G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000269535	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Nov 24, 2014)	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

SCV000269535

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Nov 24, 2014)

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	not provided	31	31	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000269535.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	31	not provided	not provided	clinical testing	PubMed (1)

Description

Lys2842Asn in exon 54 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 3.8% (7/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov /projects/SNP; dbSNP rs61997203).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		31	not provided	31	not provided

Last Updated: Sep 29, 2024

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