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NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser) AND not specified

Germline classification:
Uncertain significance (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:
RCV000600972.4

Allele description [Variation Report for NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser)]

NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser)
HGVS:
  • NC_000011.10:g.17572108C>T
  • NG_033191.2:g.29736C>T
  • NM_001277269.2:c.2020C>T
  • NM_001292063.2:c.1984C>TMANE SELECT
  • NP_001264198.1:p.Pro674Ser
  • NP_001264198.1:p.Pro674Ser
  • NP_001278992.1:p.Pro662Ser
  • NC_000011.9:g.17593655C>T
  • NM_001277269.1:c.2020C>T
Protein change:
P662S
Links:
dbSNP: rs547173007
NCBI 1000 Genomes Browser:
rs547173007
Molecular consequence:
  • NM_001277269.2:c.2020C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.1984C>T - 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
SCV000731721Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(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 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, SCV000731721.2

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

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Pro674Ser var iant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.26% (58/22594) of South Asian chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org/; dbSNP rs547173007). Although this variant has been seen in the gene ral population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do not provide strong s upport for or against an impact to the protein. In summary, while the clinical s ignificance of the p.Pro674Ser variant is uncertain, its frequency suggests that it is more likely to be benign.

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

Last Updated: Mar 16, 2024