NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del) AND Usher syndrome type 1F

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 29, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001830220.1

Allele description [Variation Report for NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del)]

NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

10q21.1

Genomic location:

Preferred name:

NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del)

HGVS:

NC_000010.11:g.53822649_53822651del
NG_009191.3:g.1811534_1811536del
NM_001142763.2:c.5098_5100del
NM_001142764.2:c.5083_5085del
NM_001142765.2:c.4870_4872del
NM_001142766.2:c.5068_5070del
NM_001142767.2:c.4957_4959del
NM_001142768.2:c.5017_5019del
NM_001142769.3:c.4409+2487_4409+2489del
NM_001142770.3:c.4373+2487_4373+2489del
NM_001142771.2:c.4388+2487_4388+2489del
NM_001142772.2:c.4373+2487_4373+2489del
NM_001142773.2:c.5008_5010del
NM_001354404.2:c.5011_5013del
NM_001354411.2:c.4388+4744_4388+4746del
NM_001354420.2:c.4367+4744_4367+4746del
NM_001354429.2:c.4368-4636_4368-4634del
NM_001384140.1:c.4368-2419_4368-2417delMANE SELECT
NM_033056.4:c.5077_5079del
NP_001136235.1:p.Pro1700del
NP_001136236.1:p.Pro1695del
NP_001136237.1:p.Pro1624del
NP_001136238.1:p.Pro1690del
NP_001136239.1:p.Pro1653del
NP_001136240.1:p.Pro1673del
NP_001136245.1:p.Pro1670del
NP_001341333.1:p.Pro1671del
NP_149045.3:p.Pro1693del
NC_000010.10:g.55582407_55582409del
NC_000010.10:g.55582409_55582411del

Protein change:

P1624del

Links:

dbSNP: rs2076368967

NCBI 1000 Genomes Browser:

rs2076368967

Molecular consequence:

NM_001142763.2:c.5098_5100del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142764.2:c.5083_5085del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142765.2:c.4870_4872del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142766.2:c.5068_5070del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142767.2:c.4957_4959del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142768.2:c.5017_5019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142773.2:c.5008_5010del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354404.2:c.5011_5013del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033056.4:c.5077_5079del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142769.3:c.4409+2487_4409+2489del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142770.3:c.4373+2487_4373+2489del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142771.2:c.4388+2487_4388+2489del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142772.2:c.4373+2487_4373+2489del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354411.2:c.4388+4744_4388+4746del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354420.2:c.4367+4744_4367+4746del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354429.2:c.4368-4636_4368-4634del - intron variant - [Sequence Ontology: SO:0001627]
NM_001384140.1:c.4368-2419_4368-2417del - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002092205	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 29, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002092205

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 29, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002092205.1

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

Last Updated: Nov 11, 2023

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