NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) AND Autosomal recessive nonsyndromic hearing loss 23

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 8, 2019
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:: RCV001804834.9

Allele description [Variation Report for NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)]

NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)

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.949T>A (p.Ser317Thr)

HGVS:

NC_000010.11:g.54236859A>T
NG_009191.3:g.1397324T>A
NM_001142763.2:c.964T>A
NM_001142764.2:c.949T>A
NM_001142765.2:c.949T>A
NM_001142766.2:c.949T>A
NM_001142767.2:c.838T>A
NM_001142768.2:c.883T>A
NM_001142769.3:c.964T>A
NM_001142770.3:c.949T>A
NM_001142771.2:c.964T>A
NM_001142772.2:c.949T>A
NM_001142773.2:c.883T>A
NM_001354404.2:c.883T>A
NM_001354411.2:c.949T>A
NM_001354420.2:c.949T>A
NM_001354429.2:c.949T>A
NM_001354430.2:c.949T>A
NM_001384140.1:c.949T>AMANE SELECT
NM_033056.4:c.949T>A
NP_001136235.1:p.Ser322Thr
NP_001136236.1:p.Ser317Thr
NP_001136237.1:p.Ser317Thr
NP_001136238.1:p.Ser317Thr
NP_001136239.1:p.Ser280Thr
NP_001136240.1:p.Ser295Thr
NP_001136241.1:p.Ser322Thr
NP_001136242.1:p.Ser317Thr
NP_001136243.1:p.Ser322Thr
NP_001136244.1:p.Ser317Thr
NP_001136245.1:p.Ser295Thr
NP_001341333.1:p.Ser295Thr
NP_001341340.1:p.Ser317Thr
NP_001341349.1:p.Ser317Thr
NP_001341358.1:p.Ser317Thr
NP_001341359.1:p.Ser317Thr
NP_001371069.1:p.Ser317Thr
NP_149045.3:p.Ser317Thr
NC_000010.10:g.55996619A>T
NM_033056.3:c.949T>A
p.Ser322Thr

Protein change:

S280T

Links:

dbSNP: rs140736502

NCBI 1000 Genomes Browser:

rs140736502

Molecular consequence:

NM_001142763.2:c.964T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142764.2:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142765.2:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142766.2:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142767.2:c.838T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142768.2:c.883T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142769.3:c.964T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142770.3:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142771.2:c.964T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142772.2:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142773.2:c.883T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354404.2:c.883T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354411.2:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354420.2:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354429.2:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354430.2:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384140.1:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033056.4:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV001745854	Center of Genomic medicine, Geneva, University Hospital of Geneva	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 8, 2019)	maternal	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

SCV001745854

Center of Genomic medicine, Geneva, University Hospital of Geneva

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 8, 2019)

maternal

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	maternal	yes	1	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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV001745854.1

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

Description

Two variants in this gene (PCDH15) were found to be in cis (both were inherited form the mother) in a young male with postlingual bilateral severe hearing loss

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 1, 2024

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