NC_000007.13:g.(?_80276057)_(83739925_?)del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 14, 2021
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:: RCV001960659.3

Allele description [Variation Report for NC_000007.13:g.(?_80276057)_(83739925_?)del]

NC_000007.13:g.(?_80276057)_(83739925_?)del

Genes:

CD36:CD36 molecule [Gene - OMIM - HGNC]
CACNA2D1:calcium voltage-gated channel auxiliary subunit alpha2delta 1 [Gene - OMIM - HGNC]
HGF:hepatocyte growth factor [Gene - OMIM - HGNC]
PCLO:piccolo presynaptic cytomatrix protein [Gene - OMIM - HGNC]
SEMA3A:semaphorin 3A [Gene - OMIM - HGNC]
SEMA3C:semaphorin 3C [Gene - OMIM - HGNC]
SEMA3E:semaphorin 3E [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q21.11

Genomic location:

Chr7: 80276057 - 83739925 (on Assembly GRCh37)

Preferred name:

NC_000007.13:g.(?_80276057)_(83739925_?)del

HGVS:

NC_000007.13:g.(?_80276057)_(83739925_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002235200	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 14, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25832664, 30287594, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002235200

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 14, 2021)

germline

clinical testing

PubMed (3)
[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

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH.

Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1.

PubMed [citation]

PMID:: 25832664
PMCID:: PMC4424132

PEHO syndrome: the endpoint of different genetic epilepsies.

Chitre M, Nahorski MS, Stouffer K, Dunning-Davies B, Houston H, Wakeling EL, Brady AF, Zuberi SM, Suri M, Parker APJ, Woods CG.

J Med Genet. 2018 Dec;55(12):803-813. doi: 10.1136/jmedgenet-2018-105288. Epub 2018 Oct 4.

PubMed [citation]

PMID:: 30287594

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002235200.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the PCLO gene has been identified. Loss-of-function variants in PCLO are known to be pathogenic (PMID: 25832664, 30287594). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with PCLO-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: Nov 11, 2023

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