NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter) AND Usher syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 31, 2022
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:: RCV003389546.1

Allele description [Variation Report for NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter)]

NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter)

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.1797C>A (p.Cys599Ter)

HGVS:

NC_000010.11:g.54132995G>T
NG_009191.3:g.1501188C>A
NM_001142763.2:c.1812C>A
NM_001142764.2:c.1797C>A
NM_001142765.2:c.1784+20105C>A
NM_001142766.2:c.1797C>A
NM_001142767.2:c.1686C>A
NM_001142768.2:c.1731C>A
NM_001142769.3:c.1833C>A
NM_001142770.3:c.1797C>A
NM_001142771.2:c.1812C>A
NM_001142772.2:c.1797C>A
NM_001142773.2:c.1731C>A
NM_001354404.2:c.1731C>A
NM_001354411.2:c.1818C>A
NM_001354420.2:c.1797C>A
NM_001354429.2:c.1797C>A
NM_001354430.2:c.1797C>A
NM_001384140.1:c.1797C>AMANE SELECT
NM_033056.4:c.1797C>A
NP_001136235.1:p.Cys604Ter
NP_001136236.1:p.Cys599Ter
NP_001136238.1:p.Cys599Ter
NP_001136239.1:p.Cys562Ter
NP_001136240.1:p.Cys577Ter
NP_001136241.1:p.Cys611Ter
NP_001136242.1:p.Cys599Ter
NP_001136243.1:p.Cys604Ter
NP_001136244.1:p.Cys599Ter
NP_001136245.1:p.Cys577Ter
NP_001341333.1:p.Cys577Ter
NP_001341340.1:p.Cys606Ter
NP_001341349.1:p.Cys599Ter
NP_001341358.1:p.Cys599Ter
NP_001341359.1:p.Cys599Ter
NP_001371069.1:p.Cys599Ter
NP_149045.3:p.Cys599Ter
NC_000010.10:g.55892755G>T

Protein change:

C562*

Molecular consequence:

NM_001142765.2:c.1784+20105C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001142763.2:c.1812C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142764.2:c.1797C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142766.2:c.1797C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142767.2:c.1686C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142768.2:c.1731C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142769.3:c.1833C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142770.3:c.1797C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142771.2:c.1812C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142772.2:c.1797C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142773.2:c.1731C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354404.2:c.1731C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354411.2:c.1818C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354420.2:c.1797C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354429.2:c.1797C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354430.2:c.1797C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384140.1:c.1797C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_033056.4:c.1797C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Usher syndrome
Synonyms:: Usher Syndromes; Usher's syndrome
Identifiers:: MONDO: MONDO:0019501; MeSH: D052245; MedGen: C0271097; Orphanet: 886; OMIM: PS276900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003927124	SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 31, 2022)	biparental	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003927124

SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 31, 2022)

biparental

research

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	biparental	yes	1	not provided	not provided	not provided	not provided	research

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 SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation, SCV003927124.1

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

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

Last Updated: Nov 20, 2023

ClinVar

Relating variation to medicine