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NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del AND Autosomal recessive nonsyndromic hearing loss 16

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 3, 2019
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:
RCV001806220.1

Allele description [Variation Report for NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del]

NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del

Genes:
  • 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]
  • PPIP5K1:diphosphoinositol pentakisphosphate kinase 1 [Gene - OMIM - HGNC]
  • PDIA3:protein disulfide isomerase family A member 3 [Gene - OMIM - HGNC]
  • STRC:stereocilin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q15.3
Genomic location:
Chr15: 43851199 - 44038794 (on Assembly GRCh37)
Preferred name:
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
HGVS:
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
Links:
Observations:
3

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
SCV001745841Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 3, 2019) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes3not 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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV001745841.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

This heterozygous CKMT1B, STRC,CATSPER2 deletion was identified in three different patients with bilateral moderate sensineural hearing loss, in compound heterozygosity with second variant affecting the STRC protein function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Apr 23, 2023