NM_001384140.1(PCDH15):c.4368-3207_4368-3204del AND Usher syndrome type 1F

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 13, 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:: RCV000672639.1

Allele description [Variation Report for NM_001384140.1(PCDH15):c.4368-3207_4368-3204del]

NM_001384140.1(PCDH15):c.4368-3207_4368-3204del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

10q21.1

Genomic location:

Preferred name:

NM_001384140.1(PCDH15):c.4368-3207_4368-3204del

HGVS:

NC_000010.11:g.53823434_53823437del
NG_009191.3:g.1810746_1810749del
NM_001142763.2:c.4389-79_4389-76del
NM_001142764.2:c.4374-79_4374-76del
NM_001142765.2:c.4161-79_4161-76del
NM_001142766.2:c.4359-79_4359-76del
NM_001142767.2:c.4248-79_4248-76del
NM_001142768.2:c.4308-79_4308-76del
NM_001142769.3:c.4409+1699_4409+1702del
NM_001142770.3:c.4373+1699_4373+1702del
NM_001142771.2:c.4388+1699_4388+1702del
NM_001142772.2:c.4373+1699_4373+1702del
NM_001142773.2:c.4299-79_4299-76del
NM_001354404.2:c.4302-79_4302-76del
NM_001354411.2:c.4388+3956_4388+3959del
NM_001354420.2:c.4367+3956_4367+3959del
NM_001354429.2:c.4367+3956_4367+3959del
NM_001384140.1:c.4368-3207_4368-3204delMANE SELECT
NM_033056.4:c.4368-79_4368-76del
NC_000010.10:g.55583194_55583197del
NM_033056.3:c.4368-79_4368-76delGAGC

Links:

dbSNP: rs1554821194

NCBI 1000 Genomes Browser:

rs1554821194

Molecular consequence:

NM_001142763.2:c.4389-79_4389-76del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142764.2:c.4374-79_4374-76del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142765.2:c.4161-79_4161-76del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142766.2:c.4359-79_4359-76del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142767.2:c.4248-79_4248-76del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142768.2:c.4308-79_4308-76del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142769.3:c.4409+1699_4409+1702del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142770.3:c.4373+1699_4373+1702del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142771.2:c.4388+1699_4388+1702del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142772.2:c.4373+1699_4373+1702del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142773.2:c.4299-79_4299-76del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354404.2:c.4302-79_4302-76del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354411.2:c.4388+3956_4388+3959del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354420.2:c.4367+3956_4367+3959del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354429.2:c.4367+3956_4367+3959del - intron variant - [Sequence Ontology: SO:0001627]
NM_001384140.1:c.4368-3207_4368-3204del - intron variant - [Sequence Ontology: SO:0001627]
NM_033056.4:c.4368-79_4368-76del - 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
SCV000797764	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely benign (Feb 13, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797764

Counsyl

criteria provided, single submitter

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

Likely benign
(Feb 13, 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, SCV000797764.1

#	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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