NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) AND Usher syndrome type 1F

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 8, 2016
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:: RCV000409923.2

Allele description [Variation Report for NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)]

NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)

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.4227T>A (p.Cys1409Ter)

HGVS:

NC_000010.11:g.53827533A>T
NG_009191.3:g.1806650T>A
NM_001142763.2:c.4242T>A
NM_001142764.2:c.4227T>A
NM_001142765.2:c.4014T>A
NM_001142766.2:c.4218T>A
NM_001142767.2:c.4107T>A
NM_001142768.2:c.4161T>A
NM_001142769.3:c.4263T>A
NM_001142770.3:c.4227T>A
NM_001142771.2:c.4242T>A
NM_001142772.2:c.4227T>A
NM_001142773.2:c.4152T>A
NM_001354404.2:c.4161T>A
NM_001354411.2:c.4248T>A
NM_001354420.2:c.4227T>A
NM_001354429.2:c.4227T>A
NM_001384140.1:c.4227T>AMANE SELECT
NM_033056.4:c.4227T>A
NP_001136235.1:p.Cys1414Ter
NP_001136236.1:p.Cys1409Ter
NP_001136237.1:p.Cys1338Ter
NP_001136238.1:p.Cys1406Ter
NP_001136239.1:p.Cys1369Ter
NP_001136240.1:p.Cys1387Ter
NP_001136241.1:p.Cys1421Ter
NP_001136242.1:p.Cys1409Ter
NP_001136243.1:p.Cys1414Ter
NP_001136244.1:p.Cys1409Ter
NP_001136245.1:p.Cys1384Ter
NP_001341333.1:p.Cys1387Ter
NP_001341340.1:p.Cys1416Ter
NP_001341349.1:p.Cys1409Ter
NP_001341358.1:p.Cys1409Ter
NP_001371069.1:p.Cys1409Ter
NP_149045.3:p.Cys1409Ter
NC_000010.10:g.55587293A>T
NM_033056.3:c.4227T>A

Protein change:

C1338*

Links:

dbSNP: rs1057516472

NCBI 1000 Genomes Browser:

rs1057516472

Molecular consequence:

NM_001142763.2:c.4242T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142764.2:c.4227T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142765.2:c.4014T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142766.2:c.4218T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142767.2:c.4107T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142768.2:c.4161T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142769.3:c.4263T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142770.3:c.4227T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142771.2:c.4242T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142772.2:c.4227T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142773.2:c.4152T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354404.2:c.4161T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354411.2:c.4248T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354420.2:c.4227T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354429.2:c.4227T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384140.1:c.4227T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_033056.4:c.4227T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Usher syndrome type 1F (USH1F)
Synonyms:: USHER SYNDROME, TYPE IF
Identifiers:: MONDO: MONDO:0011186; MedGen: C1865885; Orphanet: 231169; Orphanet: 886; OMIM: 602083

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000485735	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Feb 8, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485735

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Feb 8, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

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

Details of each submission

From Counsyl, SCV000485735.2

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

#	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

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine