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NM_003672.4(CDC14A):c.50-1G>T AND Autosomal recessive nonsyndromic hearing loss 32

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 1, 2020
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:
RCV001728011.2

Allele description [Variation Report for NM_003672.4(CDC14A):c.50-1G>T]

NM_003672.4(CDC14A):c.50-1G>T

Gene:
CDC14A:cell division cycle 14A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.2
Genomic location:
Preferred name:
NM_003672.4(CDC14A):c.50-1G>T
Other names:
NM_033313.2:c.50-1G>T, ?
HGVS:
  • NC_000001.11:g.100353761G>T
  • NG_051602.2:g.13761G>T
  • NM_001319210.2:c.50-1G>T
  • NM_001319211.2:c.-125-1G>T
  • NM_001319212.2:c.-742-1G>T
  • NM_003672.4:c.50-1G>TMANE SELECT
  • NM_033312.3:c.50-1G>T
  • NM_033313.3:c.50-1G>T
  • LRG_1418t1:c.50-1G>T
  • LRG_1418:g.13761G>T
  • NC_000001.10:g.100819317G>T
Links:
dbSNP: rs2100872719
NCBI 1000 Genomes Browser:
rs2100872719
Molecular consequence:
  • NM_001319210.2:c.50-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001319211.2:c.-125-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001319212.2:c.-742-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_003672.4:c.50-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_033312.3:c.50-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_033313.3:c.50-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 32
Synonyms:
Deafness, autosomal recessive 32; Deafness, autosomal recessive 105
Identifiers:
MONDO: MONDO:0012091; MedGen: C1837608; Orphanet: 90636; OMIM: 608653

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001976377King Laboratory, University of Washington
criteria provided, single submitter

(Abu Rayyan A et al. (Proc Natl Acad Sci U S A 2020))		Likely pathogenic
(Aug 1, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genomic analysis of inherited hearing loss in the Palestinian population.

Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, Canavati C, Dweik D, Jaraysa T, Rabie G, Carlson RJ, Gulsuner S, Lee MK, Avraham KB, Walsh T, King MC, Kanaan MN.

Proc Natl Acad Sci U S A. 2020 Aug 18;117(33):20070-20076. doi: 10.1073/pnas.2009628117. Epub 2020 Aug 3.

PubMed [citation]
PMID:
32747562
PMCID:
PMC7443947

Details of each submission

From King Laboratory, University of Washington, SCV001976377.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

Based on analysis of patient-derived RNA, CDC14A c.51-1G>T disrupts the CDC14A exon 2 splice acceptor, leading to transcriptional loss of 91bp and a stop at codon 25 (Abu Rayyan 2020). This variant is homozygous in a child with pre-lingual severe hearing loss. It is absent from 1300 Palestinian controls and from public databases.

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

Last Updated: Dec 24, 2023