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NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe) AND Autosomal recessive nonsyndromic hearing loss 23

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV001578647.2

Allele description [Variation Report for NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe)]

NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe)

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.1891G>T (p.Val631Phe)
HGVS:
  • NC_000010.11:g.54132901C>A
  • NG_009191.3:g.1501282G>T
  • NM_001142763.2:c.1906G>T
  • NM_001142764.2:c.1891G>T
  • NM_001142765.2:c.1784+20199G>T
  • NM_001142766.2:c.1891G>T
  • NM_001142767.2:c.1780G>T
  • NM_001142768.2:c.1825G>T
  • NM_001142769.3:c.1927G>T
  • NM_001142770.3:c.1891G>T
  • NM_001142771.2:c.1906G>T
  • NM_001142772.2:c.1891G>T
  • NM_001142773.2:c.1825G>T
  • NM_001354404.2:c.1825G>T
  • NM_001354411.2:c.1912G>T
  • NM_001354420.2:c.1891G>T
  • NM_001354429.2:c.1891G>T
  • NM_001354430.2:c.1891G>T
  • NM_001384140.1:c.1891G>TMANE SELECT
  • NM_033056.4:c.1891G>T
  • NP_001136235.1:p.Val636Phe
  • NP_001136236.1:p.Val631Phe
  • NP_001136238.1:p.Val631Phe
  • NP_001136239.1:p.Val594Phe
  • NP_001136240.1:p.Val609Phe
  • NP_001136241.1:p.Val643Phe
  • NP_001136242.1:p.Val631Phe
  • NP_001136243.1:p.Val636Phe
  • NP_001136244.1:p.Val631Phe
  • NP_001136245.1:p.Val609Phe
  • NP_001341333.1:p.Val609Phe
  • NP_001341340.1:p.Val638Phe
  • NP_001341349.1:p.Val631Phe
  • NP_001341358.1:p.Val631Phe
  • NP_001341359.1:p.Val631Phe
  • NP_001371069.1:p.Val631Phe
  • NP_149045.3:p.Val631Phe
  • NC_000010.10:g.55892661C>A
  • NM_033056.3:c.1891G>T
Protein change:
V594F
Links:
dbSNP: rs2133060549
NCBI 1000 Genomes Browser:
rs2133060549
Molecular consequence:
  • NM_001142765.2:c.1784+20199G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142763.2:c.1906G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142764.2:c.1891G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142766.2:c.1891G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142767.2:c.1780G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142768.2:c.1825G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142769.3:c.1927G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142770.3:c.1891G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142771.2:c.1906G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142772.2:c.1891G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142773.2:c.1825G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354404.2:c.1825G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354411.2:c.1912G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354420.2:c.1891G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354429.2:c.1891G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354430.2:c.1891G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384140.1:c.1891G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033056.4:c.1891G>T - 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
SCV001805909Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 14, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Genome-Nilou Lab, SCV001805909.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023