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NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del AND Autosomal recessive nonsyndromic hearing loss 16

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 6, 2018
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:
RCV000681613.1

Allele description [Variation Report for NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del]

NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del

Genes:
  • LOC130056948:ATAC-STARR-seq lymphoblastoid active region 9316 [Gene]
  • LOC130056949:ATAC-STARR-seq lymphoblastoid active region 9317 [Gene]
  • CATSPER2:cation channel sperm associated 2 [Gene - OMIM - HGNC]
  • CKMT1A:creatine kinase, mitochondrial 1A [Gene - OMIM - HGNC]
  • CKMT1B:creatine kinase, mitochondrial 1B [Gene - OMIM - HGNC]
  • STRC:stereocilin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q15.3
Genomic location:
Preferred name:
NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del
HGVS:
  • NC_000015.10:g.(43594659_43595806)_(43692732_43700429)del
  • NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del
Functional consequence:
complete gene deletion [Variation Ontology: 0169]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 16
Synonyms:
Deafness, autosomal recessive 16; DFNB16 Nonsyndromic Hearing Loss and Deafness
Identifiers:
MONDO: MONDO:0011364; MedGen: C1863561; Orphanet: 90636; OMIM: 603720

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000803214Research Group Niklas Dahl, Uppsala University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 6, 2018) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Scandinavianinheritedyes11not providednot providednot providedresearch

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 Research Group Niklas Dahl, Uppsala University, SCV000803214.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Scandinavian1not providednot providedresearch PubMed (1)

Description

We identified a family segregating a homozygous STRC stop variant [c.4027C>T, p.(Q1343*)] identified by exome sequencing in two siblings with childhood onset of episodic vertigo. Their first cousin with the same phenotype is compound heterozygous for the variant together with a large 97-kb deletion (NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del) spanning the STRC, CKMT1B and CATSPER2 genes.

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

Last Updated: Oct 14, 2023