NM_001277269.1(OTOG):c.1078G>A (p.Ala360Thr) AND not specified

Clinical significance:Likely benign (Last evaluated: Oct 4, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000223180.1

Allele description [Variation Report for NM_001277269.1(OTOG):c.1078G>A (p.Ala360Thr)]

NM_001277269.1(OTOG):c.1078G>A (p.Ala360Thr)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001277269.1(OTOG):c.1078G>A (p.Ala360Thr)
HGVS:
  • NC_000011.10:g.17558583G>A
  • NG_033191.1:g.16211G>A
  • NG_033191.2:g.16211G>A
  • NM_001277269.1:c.1078G>A
  • NM_001292063.1:c.1042G>A
  • NP_001264198.1:p.Ala360Thr
  • NP_001278992.1:p.Ala348Thr
  • NC_000011.9:g.17580130G>A
Protein change:
A348T
Links:
dbSNP: rs191354103
NCBI 1000 Genomes Browser:
rs191354103
Molecular consequence:
  • NM_001277269.1:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.1:c.1042G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000270646Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Oct 4, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, Partners HealthCare Personalized Medicine, SCV000270646.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

p.Ala360Thr in exon 9 of OTOG: This variant is not expected to have clinical si gnificance because it has been identified in 0.34% (1/292) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs191354103), and because of a lack of conservation across species, including mammals. Of note, 7 mammals have a threonine (Thr) at this position despite high nearby amino acid conservation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Jul 7, 2021

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