NM_001384140.1(PCDH15):c.4368-3342_4368-3335dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 31, 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:: RCV001568865.3

Allele description [Variation Report for NM_001384140.1(PCDH15):c.4368-3342_4368-3335dup]

NM_001384140.1(PCDH15):c.4368-3342_4368-3335dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

10q21.1

Genomic location:

Preferred name:

NM_001384140.1(PCDH15):c.4368-3342_4368-3335dup

HGVS:

NC_000010.11:g.53823566_53823573dup
NG_009191.3:g.1810611_1810618dup
NM_001142763.2:c.4389-214_4389-207dup
NM_001142764.2:c.4374-214_4374-207dup
NM_001142765.2:c.4161-214_4161-207dup
NM_001142766.2:c.4359-214_4359-207dup
NM_001142767.2:c.4248-214_4248-207dup
NM_001142768.2:c.4308-214_4308-207dup
NM_001142769.3:c.4409+1564_4409+1571dup
NM_001142770.3:c.4373+1564_4373+1571dup
NM_001142771.2:c.4388+1564_4388+1571dup
NM_001142772.2:c.4373+1564_4373+1571dup
NM_001142773.2:c.4299-214_4299-207dup
NM_001354404.2:c.4302-214_4302-207dup
NM_001354411.2:c.4388+3821_4388+3828dup
NM_001354420.2:c.4367+3821_4367+3828dup
NM_001354429.2:c.4367+3821_4367+3828dup
NM_001384140.1:c.4368-3342_4368-3335dupMANE SELECT
NM_033056.4:c.4368-214_4368-207dup
NC_000010.10:g.55583326_55583333dup

Links:

dbSNP: rs368371094

NCBI 1000 Genomes Browser:

rs368371094

Molecular consequence:

NM_001142763.2:c.4389-214_4389-207dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142764.2:c.4374-214_4374-207dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142765.2:c.4161-214_4161-207dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142766.2:c.4359-214_4359-207dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142767.2:c.4248-214_4248-207dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142768.2:c.4308-214_4308-207dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142769.3:c.4409+1564_4409+1571dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142770.3:c.4373+1564_4373+1571dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142771.2:c.4388+1564_4388+1571dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142772.2:c.4373+1564_4373+1571dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142773.2:c.4299-214_4299-207dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354404.2:c.4302-214_4302-207dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354411.2:c.4388+3821_4388+3828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354420.2:c.4367+3821_4367+3828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354429.2:c.4367+3821_4367+3828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001384140.1:c.4368-3342_4368-3335dup - intron variant - [Sequence Ontology: SO:0001627]
NM_033056.4:c.4368-214_4368-207dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001792811	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Dec 31, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001792811

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Dec 31, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001792811.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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