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NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter) AND Autosomal recessive nonsyndromic hearing loss 23

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 6, 2020
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:
RCV001283795.1

Allele description [Variation Report for NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)]

NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)
HGVS:
  • NC_000010.11:g.54346385G>A
  • NG_009191.3:g.1287798C>T
  • NM_001142763.2:c.589C>T
  • NM_001142764.2:c.574C>T
  • NM_001142765.2:c.574C>T
  • NM_001142766.2:c.574C>T
  • NM_001142767.2:c.574C>T
  • NM_001142768.2:c.508C>T
  • NM_001142769.3:c.589C>T
  • NM_001142770.3:c.574C>T
  • NM_001142771.2:c.589C>T
  • NM_001142772.2:c.574C>T
  • NM_001142773.2:c.508C>T
  • NM_001354404.2:c.508C>T
  • NM_001354411.2:c.574C>T
  • NM_001354420.2:c.574C>T
  • NM_001354429.2:c.574C>T
  • NM_001354430.2:c.574C>T
  • NM_001384140.1:c.574C>TMANE SELECT
  • NM_033056.4:c.574C>T
  • NP_001136235.1:p.Gln197Ter
  • NP_001136236.1:p.Gln192Ter
  • NP_001136237.1:p.Gln192Ter
  • NP_001136238.1:p.Gln192Ter
  • NP_001136239.1:p.Gln192Ter
  • NP_001136240.1:p.Gln170Ter
  • NP_001136241.1:p.Gln197Ter
  • NP_001136242.1:p.Gln192Ter
  • NP_001136243.1:p.Gln197Ter
  • NP_001136244.1:p.Gln192Ter
  • NP_001136245.1:p.Gln170Ter
  • NP_001341333.1:p.Gln170Ter
  • NP_001341340.1:p.Gln192Ter
  • NP_001341349.1:p.Gln192Ter
  • NP_001341358.1:p.Gln192Ter
  • NP_001341359.1:p.Gln192Ter
  • NP_001371069.1:p.Gln192Ter
  • NP_149045.3:p.Gln192Ter
  • NC_000010.10:g.56106145G>A
  • NM_001142763.1:c.589C>T
Protein change:
Q170*
Links:
dbSNP: rs1943286459
NCBI 1000 Genomes Browser:
rs1943286459
Molecular consequence:
  • NM_001142763.2:c.589C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142764.2:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142765.2:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142766.2:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142767.2:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142768.2:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142769.3:c.589C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142770.3:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142771.2:c.589C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142772.2:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142773.2:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354404.2:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354411.2:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354420.2:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354429.2:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354430.2:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001384140.1:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033056.4:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 23
Synonyms:
Deafness, autosomal recessive 23
Identifiers:
MONDO: MONDO:0012293; MedGen: C1836027; Orphanet: 90636; OMIM: 609533

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001469182Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Likely pathogenic
(May 6, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001469182.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024