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NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 5, 2017
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:
RCV000155247.6

Allele description [Variation Report for NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)]

NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)

Gene:
OTOA:otoancorin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)
HGVS:
  • NC_000016.10:g.21716941T>C
  • NG_012973.2:g.57809T>C
  • NM_001161683.2:c.1286T>C
  • NM_144672.4:c.1523T>CMANE SELECT
  • NM_170664.3:c.551T>C
  • NP_001155155.1:p.Val429Ala
  • NP_653273.3:p.Val508Ala
  • NP_733764.1:p.Val184Ala
  • NC_000016.9:g.21728262T>C
  • NG_012973.1:g.43428T>C
  • NM_144672.3:c.1523T>C
Protein change:
V184A
Links:
dbSNP: rs138141474
NCBI 1000 Genomes Browser:
rs138141474
Molecular consequence:
  • NM_001161683.2:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144672.4:c.1523T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170664.3:c.551T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
11

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
SCV000204933Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Jul 5, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1111not 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, SCV000204933.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided11not providednot providedclinical testing PubMed (1)

Description

p.Val508Ala in exon 14 of OTOA: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote 8 mammals have an alanine (Ala) at this position despite high nearby amino a cid conservation. In addition, computational analyses do not suggest a high like lihood of impact to the protein. This variant has been identified in 1% (110/101 40) of Ashkenazi Jewish chromosomes including 1 homozygote by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs138141474).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided11not provided11not provided

Last Updated: Oct 8, 2024