NM_000439.5(PCSK1):c.280G>A (p.Asp94Asn) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 14, 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:: RCV002275437.2

Allele description [Variation Report for NM_000439.5(PCSK1):c.280G>A (p.Asp94Asn)]

NM_000439.5(PCSK1):c.280G>A (p.Asp94Asn)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q15

Genomic location:

Preferred name:

NM_000439.5(PCSK1):c.280G>A (p.Asp94Asn)

HGVS:

NC_000005.10:g.96429218C>T
NG_021161.1:g.9064G>A
NM_000439.5:c.280G>AMANE SELECT
NM_001177875.2:c.139G>A
NP_000430.3:p.Asp94Asn
NP_001171346.1:p.Asp47Asn
NC_000005.9:g.95764922C>T
NM_000439.4:c.280G>A

Protein change:

D47N

Links:

dbSNP: rs1761413119

NCBI 1000 Genomes Browser:

rs1761413119

Molecular consequence:

NM_000439.5:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001177875.2:c.139G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Rattus norvegicus solute carrier family 22, member 18, mRNA (cDNA clone MGC:9418...
Rattus norvegicus solute carrier family 22, member 18, mRNA (cDNA clone MGC:94186 IMAGE:7129231), complete cds
gi|50926990|gb|BC079159.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002562636	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 14, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002562636

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 14, 2022)

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, SCV002562636.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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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