NM_001277269.1(OTOG):c.7694G>C (p.Arg2565Pro) AND Deafness, autosomal recessive 18b

Clinical significance:Uncertain significance (Last evaluated: Jan 30, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001336341.1

Allele description [Variation Report for NM_001277269.1(OTOG):c.7694G>C (p.Arg2565Pro)]

NM_001277269.1(OTOG):c.7694G>C (p.Arg2565Pro)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001277269.1(OTOG):c.7694G>C (p.Arg2565Pro)
HGVS:
  • NC_000011.10:g.17635152G>C
  • NG_033191.1:g.92780G>C
  • NG_033191.2:g.92780G>C
  • NM_001277269.1:c.7694G>C
  • NM_001292063.1:c.7658G>C
  • NP_001264198.1:p.Arg2565Pro
  • NP_001278992.1:p.Arg2553Pro
  • NC_000011.9:g.17656699G>C
Protein change:
R2553P
Links:
dbSNP: rs563003848
NCBI 1000 Genomes Browser:
rs563003848
Molecular consequence:
  • NM_001277269.1:c.7694G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.1:c.7658G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 18b (DFNB18B)
Identifiers:
MONDO: MONDO:0013985; MedGen: C3554163; Orphanet: 90636; OMIM: 614945

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001529702Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Jan 30, 2018)
paternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV001529702.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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