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NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu) AND Autosomal recessive nonsyndromic hearing loss 23

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:
RCV001809325.2

Allele description [Variation Report for NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu)]

NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu)

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.417C>G (p.Asp139Glu)
Other names:
NM_001142769.1:c.432C>G
HGVS:
  • NC_000010.11:g.54369177G>C
  • NG_009191.3:g.1265006C>G
  • NM_001142763.2:c.432C>G
  • NM_001142764.2:c.417C>G
  • NM_001142765.2:c.417C>G
  • NM_001142766.2:c.417C>G
  • NM_001142767.2:c.417C>G
  • NM_001142768.2:c.351C>G
  • NM_001142769.3:c.432C>G
  • NM_001142770.3:c.417C>G
  • NM_001142771.2:c.432C>G
  • NM_001142772.2:c.417C>G
  • NM_001142773.2:c.351C>G
  • NM_001354404.2:c.351C>G
  • NM_001354411.2:c.417C>G
  • NM_001354420.2:c.417C>G
  • NM_001354429.2:c.417C>G
  • NM_001354430.2:c.417C>G
  • NM_001384140.1:c.417C>GMANE SELECT
  • NM_033056.4:c.417C>G
  • NP_001136235.1:p.Asp144Glu
  • NP_001136236.1:p.Asp139Glu
  • NP_001136237.1:p.Asp139Glu
  • NP_001136238.1:p.Asp139Glu
  • NP_001136239.1:p.Asp139Glu
  • NP_001136240.1:p.Asp117Glu
  • NP_001136241.1:p.Asp144Glu
  • NP_001136242.1:p.Asp139Glu
  • NP_001136243.1:p.Asp144Glu
  • NP_001136244.1:p.Asp139Glu
  • NP_001136245.1:p.Asp117Glu
  • NP_001341333.1:p.Asp117Glu
  • NP_001341340.1:p.Asp139Glu
  • NP_001341349.1:p.Asp139Glu
  • NP_001341358.1:p.Asp139Glu
  • NP_001341359.1:p.Asp139Glu
  • NP_001371069.1:p.Asp139Glu
  • NP_149045.3:p.Asp139Glu
  • NC_000010.10:g.56128937G>C
Protein change:
D117E
Links:
dbSNP: rs2134714388
NCBI 1000 Genomes Browser:
rs2134714388
Molecular consequence:
  • NM_001142763.2:c.432C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142764.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142765.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142766.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142767.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142768.2:c.351C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142769.3:c.432C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142770.3:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142771.2:c.432C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142772.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142773.2:c.351C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354404.2:c.351C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354411.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354420.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354429.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354430.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384140.1:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033056.4:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002059899King 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, SCV002059899.1

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

Description

PCDH15 c.432C>G, p.D144E alters a residue of a PCDH15 cadherin domain that is completely conserved in all sequenced vertebrates. The variant is homozygous in 2 Palestinian children with pre-lingual hearing loss (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and from gnomAD v2.1.1.

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

Last Updated: Dec 24, 2023