U.S. flag

An official website of the United States government

NM_000439.5(PCSK1):c.282T>C (p.Asp94=) AND PCSK1-related disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 24, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003896353.2

Allele description [Variation Report for NM_000439.5(PCSK1):c.282T>C (p.Asp94=)]

NM_000439.5(PCSK1):c.282T>C (p.Asp94=)

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.282T>C (p.Asp94=)
HGVS:
  • NC_000005.10:g.96429216A>G
  • NG_021161.1:g.9066T>C
  • NM_000439.5:c.282T>CMANE SELECT
  • NM_001177875.2:c.141T>C
  • NM_001423250.1:c.-175+49564A>G
  • NM_001423251.1:c.-175+49564A>G
  • NM_001423252.1:c.-175+49564A>G
  • NM_001423253.1:c.-103+49564A>G
  • NM_001423254.1:c.-175+49564A>G
  • NM_001423255.1:c.-175+49564A>G
  • NM_001423256.1:c.-175+49564A>G
  • NM_001423257.1:c.-175+49564A>G
  • NM_001423258.1:c.-40+49564A>G
  • NM_001423259.1:c.-175+49564A>G
  • NM_001423260.1:c.-175+49564A>G
  • NP_000430.3:p.Asp94=
  • NP_001171346.1:p.Asp47=
  • NC_000005.9:g.95764920A>G
  • NM_000439.4:c.282T>C
Molecular consequence:
  • NM_001423250.1:c.-175+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001423251.1:c.-175+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001423252.1:c.-175+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001423253.1:c.-103+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001423254.1:c.-175+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001423255.1:c.-175+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001423256.1:c.-175+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001423257.1:c.-175+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001423258.1:c.-40+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001423259.1:c.-175+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001423260.1:c.-175+49564A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000439.5:c.282T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001177875.2:c.141T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
PCSK1-related disorder
Synonyms:
PCSK1-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004712512PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely benign
(May 24, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004712512.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024