NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup) AND Usher syndrome type 1F

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 3, 2017
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:: RCV000668333.1

Allele description [Variation Report for NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup)]

NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

10q21.1

Genomic location:

Preferred name:

NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup)

HGVS:

NC_000010.11:g.53822466_53822477dup
NG_009191.3:g.1811714_1811725dup
NM_001142763.2:c.5278_5289dup
NM_001142764.2:c.5263_5274dup
NM_001142765.2:c.5050_5061dup
NM_001142766.2:c.5248_5259dup
NM_001142767.2:c.5137_5148dup
NM_001142768.2:c.5197_5208dup
NM_001142769.3:c.4409+2667_4409+2678dup
NM_001142770.3:c.4373+2667_4373+2678dup
NM_001142771.2:c.4388+2667_4388+2678dup
NM_001142772.2:c.4373+2667_4373+2678dup
NM_001142773.2:c.5188_5199dup
NM_001354404.2:c.5191_5202dup
NM_001354411.2:c.4388+4924_4388+4935dup
NM_001354420.2:c.4367+4924_4367+4935dup
NM_001354429.2:c.4368-4456_4368-4445dup
NM_001384140.1:c.4368-2239_4368-2228dupMANE SELECT
NM_033056.4:c.5257_5268dup
NP_001136235.1:p.Ile1760_Pro1763dup
NP_001136236.1:p.Ile1755_Pro1758dup
NP_001136237.1:p.Ile1684_Pro1687dup
NP_001136238.1:p.Ile1750_Pro1753dup
NP_001136239.1:p.Ile1713_Pro1716dup
NP_001136240.1:p.Ile1733_Pro1736dup
NP_001136245.1:p.Ile1730_Pro1733dup
NP_001341333.1:p.Ile1731_Pro1734dup
NP_149045.3:p.Ile1753_Pro1756dup
NC_000010.10:g.55582226_55582237dup

Links:

dbSNP: rs756858099

NCBI 1000 Genomes Browser:

rs756858099

Molecular consequence:

NM_001142763.2:c.5278_5289dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001142764.2:c.5263_5274dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001142765.2:c.5050_5061dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001142766.2:c.5248_5259dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001142767.2:c.5137_5148dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001142768.2:c.5197_5208dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001142773.2:c.5188_5199dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001354404.2:c.5191_5202dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_033056.4:c.5257_5268dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001142769.3:c.4409+2667_4409+2678dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142770.3:c.4373+2667_4373+2678dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142771.2:c.4388+2667_4388+2678dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142772.2:c.4373+2667_4373+2678dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354411.2:c.4388+4924_4388+4935dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354420.2:c.4367+4924_4367+4935dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354429.2:c.4368-4456_4368-4445dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001384140.1:c.4368-2239_4368-2228dup - 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
SCV000792912	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Aug 3, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792912

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Aug 3, 2017)

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, SCV000792912.1

#	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: Sep 17, 2022

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