NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del) AND Usher syndrome type 1F

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 2, 2018
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:: RCV000673742.1

Allele description [Variation Report for NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del)]

NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

10q21.1

Genomic location:

Preferred name:

NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del)

HGVS:

NC_000010.11:g.53806634TCA[2]
NG_009191.3:g.1827541TGA[2]
NM_001142771.2:c.4986TGA[2]
NM_001142772.2:c.4971TGA[2]
NM_001354420.2:c.4965TGA[2]
NM_001354429.2:c.5094TGA[2]
NM_001384140.1:c.5160TGA[2]MANE SELECT
NP_001136243.1:p.Asp1664del
NP_001136244.1:p.Asp1659del
NP_001341349.1:p.Asp1657del
NP_001341358.1:p.Asp1700del
NP_001371069.1:p.Asp1722del
NC_000010.10:g.55566394TCA[2]
NC_000010.10:g.55566394_55566396delTCA

Protein change:

D1657del

Links:

Counsyl: 2412605; dbSNP: rs1554814635

NCBI 1000 Genomes Browser:

rs1554814635

Molecular consequence:

NM_001142771.2:c.4986TGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001142772.2:c.4971TGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354420.2:c.4965TGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354429.2:c.5094TGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001384140.1:c.5160TGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000798979	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Apr 2, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000798979

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Apr 2, 2018)

unknown

clinical testing

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, SCV000798979.1

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

Last Updated: Apr 23, 2022

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