NC_000010.10:g.(?_55755399)_(56138712_?)del AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 3, 2022
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:: RCV001953518.3

Allele description

NC_000010.10:g.(?_55755399)_(56138712_?)del

Gene:: PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 10q21.1
Genomic location:: Chr10: 55755399 - 56138712 (on Assembly GRCh37)
Preferred name:: NC_000010.10:g.(?_55755399)_(56138712_?)del
HGVS:: NC_000010.10:g.(?_55755399)_(56138712_?)del
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002241367	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 3, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11398101, 11487575, 14570705, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002241367

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 3, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER.

Am J Hum Genet. 2001 Jul;69(1):25-34. Epub 2001 Jun 7.

PubMed [citation]

PMID:: 11398101
PMCID:: PMC1226045

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.

Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ.

Hum Mol Genet. 2001 Aug 1;10(16):1709-18. Erratum in: Hum Mol Genet 2001 Oct 15;10(22):2603. Hagemen GS [corrected to Hageman GS].

PubMed [citation]

PMID:: 11487575

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV002241367.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 4-21 of the PCDH15 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PCDH15 are known to be pathogenic (PMID: 11398101, 11487575, 14570705). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 18, 2023

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