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NM_003672.4(CDC14A):c.839-3C>G AND Autosomal recessive nonsyndromic hearing loss 32

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 3, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000677138.1

Allele description [Variation Report for NM_003672.4(CDC14A):c.839-3C>G]

NM_003672.4(CDC14A):c.839-3C>G

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.839-3C>G
HGVS:
  • NC_000001.11:g.100467953C>G
  • NG_051602.2:g.127953C>G
  • NM_001319210.2:c.839-3C>G
  • NM_001319211.2:c.665-3C>G
  • NM_001319212.2:c.-41-3C>G
  • NM_003672.4:c.839-3C>GMANE SELECT
  • NM_033312.3:c.839-3C>G
  • NM_033313.3:c.839-3C>G
  • LRG_1418t1:c.839-3C>G
  • LRG_1418:g.127953C>G
  • NC_000001.10:g.100933509C>G
  • NM_033312.2:c.839-3C>G
Nucleotide change:
IVS9AS, C-G, -3
Links:
OMIM: 603504.0006; dbSNP: rs1553191001
NCBI 1000 Genomes Browser:
rs1553191001
Molecular consequence:
  • NM_001319210.2:c.839-3C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319211.2:c.665-3C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319212.2:c.-41-3C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003672.4:c.839-3C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033312.3:c.839-3C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033313.3:c.839-3C>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000803208OMIM
no assertion criteria provided
Pathogenic
(Aug 3, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

CDC14A phosphatase is essential for hearing and male fertility in mouse and human.

Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, et al.

Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440.

PubMed [citation]
PMID:
29293958
PMCID:
PMC6059191

Details of each submission

From OMIM, SCV000803208.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 affected men from a consanguineous Pakistani family (HPK1) with prelingual sensorineural moderate hearing loss (DFNB32; 608653), who used hearing aids in oral conversation, Imtiaz et al. (2018) identified homozygosity for a splice site mutation (c.839-3C-G, NM_033312.2) in intron 9 of the CDC14A gene. Analysis of leukocyte mRNA from affected and unaffected family members revealed 2 aberrant mRNA transcripts, one that skips exon 10 and another that uses a cryptic exon 10 acceptor splice site, both causing frameshifts predicted to result in premature termination codons (Lys279fs16Ter and Lys279fs10Ter, respectively). The fertility status of 1 of the deaf men was reported as unknown; the second deaf man had been married 11 years with no offspring, and semen analysis showed 16 to 50 million sperm/mL, of which 65 to 75% were immotile and 60% exhibited abnormal morphology.

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

Last Updated: Aug 5, 2023