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NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly) AND not specified

Germline classification:
Likely 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:
RCV000219649.4

Allele description [Variation Report for NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly)]

NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly)

Gene:
OTOGL:otogelin like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q21.31
Genomic location:
Preferred name:
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly)
HGVS:
  • NC_000012.12:g.80358862T>G
  • NG_033008.1:g.154410T>G
  • NM_001368062.3:c.6094T>G
  • NM_001378609.3:c.6229T>GMANE SELECT
  • NM_001378610.3:c.6229T>G
  • NM_173591.7:c.6229T>G
  • NP_001354991.2:p.Cys2032Gly
  • NP_001365538.2:p.Cys2077Gly
  • NP_001365539.2:p.Cys2077Gly
  • NP_775862.3:p.Cys2068Gly
  • NP_775862.4:p.Cys2077Gly
  • NC_000012.11:g.80752642T>G
  • NM_173591.3:c.6202T>G
Protein change:
C2032G
Links:
dbSNP: rs145929269
NCBI 1000 Genomes Browser:
rs145929269
Molecular consequence:
  • NM_001368062.3:c.6094T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378609.3:c.6229T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378610.3:c.6229T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173591.7:c.6229T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000270711Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Nov 24, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical 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, SCV000270711.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Cys2068Gly in exon 51 of OTOGL: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (14/4362) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs145929269).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024