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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001805909	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 14, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001805909

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 14, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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