NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del) AND Usher syndrome type 1F

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 11, 2019
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:: RCV001835160.1

Allele description [Variation Report for NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del)]

NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

10q21.1

Genomic location:

Preferred name:

NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del)

HGVS:

NC_000010.11:g.53822432_53822446del
NG_009191.3:g.1811744_1811758del
NM_001142763.2:c.5308_5322del
NM_001142764.2:c.5293_5307del
NM_001142765.2:c.5080_5094del
NM_001142766.2:c.5278_5292del
NM_001142767.2:c.5167_5181del
NM_001142768.2:c.5227_5241del
NM_001142769.3:c.4409+2697_4409+2711del
NM_001142770.3:c.4373+2697_4373+2711del
NM_001142771.2:c.4388+2697_4388+2711del
NM_001142772.2:c.4373+2697_4373+2711del
NM_001142773.2:c.5218_5232del
NM_001354404.2:c.5221_5235del
NM_001354411.2:c.4388+4954_4388+4968del
NM_001354420.2:c.4367+4954_4367+4968del
NM_001354429.2:c.4368-4426_4368-4412del
NM_001384140.1:c.4368-2209_4368-2195delMANE SELECT
NM_033056.4:c.5287_5301del
NP_001136235.1:p.Ala1770_Pro1774del
NP_001136236.1:p.Ala1765_Pro1769del
NP_001136237.1:p.Ala1694_Pro1698del
NP_001136238.1:p.Ala1760_Pro1764del
NP_001136239.1:p.Ala1723_Pro1727del
NP_001136240.1:p.Ala1743_Pro1747del
NP_001136245.1:p.Ala1740_Pro1744del
NP_001341333.1:p.Ala1741_Pro1745del
NP_149045.3:p.Ala1763_Pro1767del
NC_000010.10:g.55582185_55582199del
NC_000010.10:g.55582192_55582206del
NM_033056.3:c.5287_5301del

Links:

dbSNP: rs770671117

NCBI 1000 Genomes Browser:

rs770671117

Molecular consequence:

NM_001142763.2:c.5308_5322del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142764.2:c.5293_5307del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142765.2:c.5080_5094del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142766.2:c.5278_5292del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142767.2:c.5167_5181del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142768.2:c.5227_5241del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142773.2:c.5218_5232del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354404.2:c.5221_5235del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033056.4:c.5287_5301del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142769.3:c.4409+2697_4409+2711del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142770.3:c.4373+2697_4373+2711del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142771.2:c.4388+2697_4388+2711del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142772.2:c.4373+2697_4373+2711del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354411.2:c.4388+4954_4388+4968del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354420.2:c.4367+4954_4367+4968del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354429.2:c.4368-4426_4368-4412del - intron variant - [Sequence Ontology: SO:0001627]
NM_001384140.1:c.4368-2209_4368-2195del - 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
SCV002083675	Natera, Inc.	no assertion criteria provided	Likely benign (Nov 11, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002083675

Natera, Inc.

no assertion criteria provided

Likely benign
(Nov 11, 2019)

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., SCV002083675.1

#	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: Sep 29, 2024

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