NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup) AND Usher syndrome type 1F

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 13, 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:: RCV000664456.1

Allele description [Variation Report for NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup)]

NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

10q21.1

Genomic location:

Preferred name:

NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup)

HGVS:

NC_000010.11:g.53806758_53806760dup
NG_009191.3:g.1827424_1827426dup
NM_001142771.2:c.4869_4871dup
NM_001142772.2:c.4854_4856dup
NM_001354420.2:c.4848_4850dup
NM_001354429.2:c.4977_4979dup
NM_001384140.1:c.5043_5045dupMANE SELECT
NP_001136243.1:p.Asn1624dup
NP_001136244.1:p.Asn1619dup
NP_001341349.1:p.Asn1617dup
NP_001341358.1:p.Asn1660dup
NP_001371069.1:p.Asn1682dup
NC_000010.10:g.55566518_55566520dup
NC_000010.10:g.55566518_55566520dupTGT

Links:

Counsyl: 1989688; dbSNP: rs1554814729

NCBI 1000 Genomes Browser:

rs1554814729

Molecular consequence:

NM_001142771.2:c.4869_4871dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001142772.2:c.4854_4856dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001354420.2:c.4848_4850dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001354429.2:c.4977_4979dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384140.1:c.5043_5045dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV000788420	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Oct 13, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000788420

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Oct 13, 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, SCV000788420.1

#	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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