NM_000439.5(PCSK1):c.544-47_544-38del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 19, 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:: RCV001682387.1

Allele description [Variation Report for NM_000439.5(PCSK1):c.544-47_544-38del]

NM_000439.5(PCSK1):c.544-47_544-38del

Genes:

CAST:calpastatin [Gene - OMIM - HGNC]
PCSK1:proprotein convertase subtilisin/kexin type 1 [Gene - OMIM - HGNC]
LOC101929710:uncharacterized LOC101929710 [Gene]

Variant type:

Deletion

Cytogenetic location:

5q15

Genomic location:

Preferred name:

NM_000439.5(PCSK1):c.544-47_544-38del

HGVS:

NC_000005.10:g.96422010_96422019del
NG_021161.1:g.16279_16288del
NM_000439.5:c.544-47_544-38delMANE SELECT
NM_001177875.2:c.403-47_403-38del
NC_000005.9:g.95757714_95757723del

Links:

dbSNP: rs11317408

NCBI 1000 Genomes Browser:

rs11317408

Molecular consequence:

NM_000439.5:c.544-47_544-38del - intron variant - [Sequence Ontology: SO:0001627]
NM_001177875.2:c.403-47_403-38del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001905156	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jun 19, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001905156

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jun 19, 2021)

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, SCV001905156.1

#	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

ClinVar

Relating variation to medicine