U.S. flag

An official website of the United States government

NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter) 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:
RCV003476685.2

Allele description [Variation Report for NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)]

NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
HGVS:
  • NC_000010.11:g.53840326dup
  • NG_009191.3:g.1793861dup
  • NM_001142763.2:c.3996dup
  • NM_001142764.2:c.3981dup
  • NM_001142765.2:c.3768dup
  • NM_001142766.2:c.3981dup
  • NM_001142767.2:c.3870dup
  • NM_001142768.2:c.3915dup
  • NM_001142769.3:c.4017dup
  • NM_001142770.3:c.3981dup
  • NM_001142771.2:c.3996dup
  • NM_001142772.2:c.3981dup
  • NM_001142773.2:c.3915dup
  • NM_001354404.2:c.3915dup
  • NM_001354411.2:c.4002dup
  • NM_001354420.2:c.3981dup
  • NM_001354429.2:c.3981dup
  • NM_001384140.1:c.3981dupMANE SELECT
  • NM_033056.4:c.3981dup
  • NP_001136235.1:p.Lys1333Ter
  • NP_001136236.1:p.Lys1328Ter
  • NP_001136237.1:p.Lys1257Ter
  • NP_001136238.1:p.Lys1328Ter
  • NP_001136239.1:p.Lys1291Ter
  • NP_001136240.1:p.Lys1306Ter
  • NP_001136241.1:p.Lys1340Ter
  • NP_001136242.1:p.Lys1328Ter
  • NP_001136243.1:p.Lys1333Ter
  • NP_001136244.1:p.Lys1328Ter
  • NP_001136245.1:p.Lys1306Ter
  • NP_001341333.1:p.Lys1306Ter
  • NP_001341340.1:p.Lys1335Ter
  • NP_001341349.1:p.Lys1328Ter
  • NP_001341358.1:p.Lys1328Ter
  • NP_001371069.1:p.Lys1328Ter
  • NP_149045.3:p.Lys1328Ter
  • NC_000010.10:g.55600086dup
Protein change:
K1257*
Molecular consequence:
  • NM_001142763.2:c.3996dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142764.2:c.3981dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142765.2:c.3768dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142766.2:c.3981dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142767.2:c.3870dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142768.2:c.3915dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142769.3:c.4017dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142770.3:c.3981dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142771.2:c.3996dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142772.2:c.3981dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142773.2:c.3915dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354404.2:c.3915dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354411.2:c.4002dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354420.2:c.3981dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354429.2:c.3981dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001384140.1:c.3981dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033056.4:c.3981dup - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Baylor Genetics, SCV004200819.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004200819Baylor 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
(May 29, 2023) 		unknownclinical testing

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

Last Updated: Jul 23, 2024