NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) 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:: RCV003471963.2

Allele description [Variation Report for NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)]

NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

10q21.1

Genomic location:

Preferred name:

NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)

HGVS:

NC_000010.11:g.53959807_53959814dup
NG_009191.3:g.1674369_1674376dup
NM_001142763.2:c.3055_3062dup
NM_001142764.2:c.3040_3047dup
NM_001142765.2:c.2827_2834dup
NM_001142766.2:c.3040_3047dup
NM_001142767.2:c.2929_2936dup
NM_001142768.2:c.2974_2981dup
NM_001142769.3:c.3076_3083dup
NM_001142770.3:c.3040_3047dup
NM_001142771.2:c.3055_3062dup
NM_001142772.2:c.3040_3047dup
NM_001142773.2:c.2974_2981dup
NM_001354404.2:c.2974_2981dup
NM_001354411.2:c.3061_3068dup
NM_001354420.2:c.3040_3047dup
NM_001354429.2:c.3040_3047dup
NM_001384140.1:c.3040_3047dupMANE SELECT
NM_033056.4:c.3040_3047dup
NP_001136235.1:p.Met1021delinsIleLeuTer
NP_001136236.1:p.Met1016delinsIleLeuTer
NP_001136237.1:p.Met945delinsIleLeuTer
NP_001136238.1:p.Met1016delinsIleLeuTer
NP_001136239.1:p.Met979delinsIleLeuTer
NP_001136240.1:p.Met994delinsIleLeuTer
NP_001136241.1:p.Met1028delinsIleLeuTer
NP_001136242.1:p.Met1016delinsIleLeuTer
NP_001136243.1:p.Met1021delinsIleLeuTer
NP_001136244.1:p.Met1016delinsIleLeuTer
NP_001136245.1:p.Met994delinsIleLeuTer
NP_001341333.1:p.Met994delinsIleLeuTer
NP_001341340.1:p.Met1023delinsIleLeuTer
NP_001341349.1:p.Met1016delinsIleLeuTer
NP_001341358.1:p.Met1016delinsIleLeuTer
NP_001371069.1:p.Met1016delinsIleLeuTer
NP_149045.3:p.Met1016delinsIleLeuTer
NC_000010.10:g.55719566_55719567insATCACAGG
NC_000010.10:g.55719567_55719574dup
NM_033056.3:c.3040_3047dup

Links:

dbSNP: rs1554882652

NCBI 1000 Genomes Browser:

rs1554882652

Molecular consequence:

NM_001142763.2:c.3055_3062dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001142764.2:c.3040_3047dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001142765.2:c.2827_2834dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001142766.2:c.3040_3047dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001142767.2:c.2929_2936dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001142768.2:c.2974_2981dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001142769.3:c.3076_3083dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001142770.3:c.3040_3047dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001142771.2:c.3055_3062dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001142772.2:c.3040_3047dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001142773.2:c.2974_2981dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354404.2:c.2974_2981dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354411.2:c.3061_3068dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354420.2:c.3040_3047dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354429.2:c.3040_3047dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001384140.1:c.3040_3047dup - nonsense - [Sequence Ontology: SO:0001587]
NM_033056.4:c.3040_3047dup - nonsense - [Sequence Ontology: SO:0001587]

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, SCV004200766.1

#	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
SCV004200766	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)	Likely pathogenic (Oct 29, 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

SCV004200766

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)

Likely pathogenic
(Oct 29, 2023)

unknown

clinical testing

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine