NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs) AND Autosomal recessive nonsyndromic hearing loss 23

Germline classification:: no classifications from unflagged records (1 submission)
Last evaluated:: Apr 30, 2024
Review status:: no classifications from unflagged records

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:: RCV003475489.2

Allele description [Variation Report for NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)]

NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)

Gene:

PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

10q21.1

Genomic location:

Preferred name:

NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)

Other names:

NM_001384140.1:c.1863_1864dup

HGVS:

NC_000010.11:g.54132928TA[3]
NG_009191.3:g.1501252TA[3]
NM_001142763.2:c.1878_1879dup
NM_001142764.2:c.1863_1864dup
NM_001142765.2:c.1784+20169TA[3]
NM_001142766.2:c.1863_1864dup
NM_001142767.2:c.1752_1753dup
NM_001142768.2:c.1797_1798dup
NM_001142769.3:c.1899_1900dup
NM_001142770.3:c.1863_1864dup
NM_001142771.2:c.1878_1879dup
NM_001142772.2:c.1863_1864dup
NM_001142773.2:c.1797_1798dup
NM_001354404.2:c.1797_1798dup
NM_001354411.2:c.1884_1885dup
NM_001354420.2:c.1863_1864dup
NM_001354429.2:c.1863_1864dup
NM_001354430.2:c.1863_1864dup
NM_001384140.1:c.1863_1864dupMANE SELECT
NM_033056.4:c.1863_1864dup
NP_001136235.1:p.Ser627fs
NP_001136236.1:p.Ser622fs
NP_001136238.1:p.Ser622fs
NP_001136239.1:p.Ser585fs
NP_001136240.1:p.Ser600fs
NP_001136241.1:p.Ser634fs
NP_001136242.1:p.Ser622fs
NP_001136243.1:p.Ser627fs
NP_001136244.1:p.Ser622fs
NP_001136245.1:p.Ser600fs
NP_001341333.1:p.Ser600fs
NP_001341340.1:p.Ser629fs
NP_001341349.1:p.Ser622fs
NP_001341358.1:p.Ser622fs
NP_001341359.1:p.Ser622fs
NP_001371069.1:p.Ser622fs
NP_149045.3:p.Ser622fs
NC_000010.10:g.55892687_55892688insTA
NC_000010.10:g.55892688TA[3]
NC_000010.11:g.54132930_54132931dup

Protein change:

S585fs

Molecular consequence:

NM_001142763.2:c.1878_1879dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142764.2:c.1863_1864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142766.2:c.1863_1864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142767.2:c.1752_1753dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142768.2:c.1797_1798dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142769.3:c.1899_1900dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142770.3:c.1863_1864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142771.2:c.1878_1879dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142772.2:c.1863_1864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142773.2:c.1797_1798dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354404.2:c.1797_1798dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354411.2:c.1884_1885dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354420.2:c.1863_1864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354429.2:c.1863_1864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354430.2:c.1863_1864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001384140.1:c.1863_1864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033056.4:c.1863_1864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142765.2:c.1784+20169TA[3] - intron variant - [Sequence Ontology: SO:0001627]

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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No clinical assertions found. See "Flagged submissions" below.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	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 Baylor Genetics, SCV004200826.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004200826	Baylor Genetics	flagged submission Reason: Other Notes: Flagging candidate with reason of insufficient supporting evidence. This gene has been classified as having a limited gene-disease relationship by a ClinGen Expert Panel. (ACMG Guidelines, 2015)	Pathogenic (May 12, 2023)	unknown	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

SCV004200826

Baylor Genetics

flagged submission

Reason: Other

Notes: Flagging candidate with reason of insufficient supporting evidence. This gene has been classified as having a limited gene-disease relationship by a ClinGen Expert Panel.

(ACMG Guidelines, 2015)

Pathogenic
(May 12, 2023)

unknown

clinical testing

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine