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NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro) AND Autosomal recessive nonsyndromic hearing loss 32

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 5, 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:
RCV000790861.1

Allele description [Variation Report for NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro)]

NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro)

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.959A>C (p.Gln320Pro)
HGVS:
  • NC_000001.11:g.100468076A>C
  • NG_051602.2:g.128076A>C
  • NM_001319210.2:c.959A>C
  • NM_001319211.2:c.785A>C
  • NM_001319212.2:c.80A>C
  • NM_003672.4:c.959A>CMANE SELECT
  • NM_033312.3:c.959A>C
  • NM_033313.3:c.959A>C
  • NP_001306139.1:p.Gln320Pro
  • NP_001306140.1:p.Gln262Pro
  • NP_001306141.1:p.Gln27Pro
  • NP_003663.2:p.Gln320Pro
  • NP_201569.1:p.Gln320Pro
  • NP_201570.1:p.Gln320Pro
  • LRG_1418t1:c.959A>C
  • LRG_1418:g.128076A>C
  • LRG_1418p1:p.Gln320Pro
  • NC_000001.10:g.100933632A>C
  • NM_003672.3:c.959A>C
Protein change:
Q262P
Links:
dbSNP: rs1339709390
NCBI 1000 Genomes Browser:
rs1339709390
Molecular consequence:
  • NM_001319210.2:c.959A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319211.2:c.785A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319212.2:c.80A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003672.4:c.959A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033312.3:c.959A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033313.3:c.959A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000930070SIB Swiss Institute of Bioinformatics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 5, 2018) 		unknowncuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedcuration

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

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 SIB Swiss Institute of Bioinformatics, SCV000930070.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

This variant is interpreted as a Likely pathogenic for Deafness, autosomal recessive 32, with or without immotile sperm. The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1-Strong : Segregation data PP1 upgraded to strong (PMID:29293958).

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

Last Updated: Aug 5, 2023