NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 7, 2023
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:
RCV003223634.8

Allele description [Variation Report for NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)]

NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)

Gene:
PCSK9:proprotein convertase subtilisin/kexin type 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
HGVS:
  • NC_000001.11:g.55039931G>A
  • NG_009061.1:g.5385G>A
  • NM_174936.4:c.94G>AMANE SELECT
  • NP_777596.2:p.Glu32Lys
  • NP_777596.2:p.Glu32Lys
  • LRG_275t1:c.94G>A
  • LRG_275:g.5385G>A
  • LRG_275p1:p.Glu32Lys
  • NC_000001.10:g.55505604G>A
  • NM_174936.3:c.94G>A
  • NM_174936.4:c.94G>A
  • p.Glu32Lys
Protein change:
E32K
Links:
Molecular consequence:
  • NM_174936.4:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003919432GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 7, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV003919432.1

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

Description

Published functional studies demonstrate a damaging effect: increased extracellular PCSK9 activity, increased LDLR affinity, and decreased LDLR expression and uptake (Noguchi et al., 2010; Uribe et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30241732, 17316651, 31447099, 28784313, 34652028, 22683120, 33173529, 29192238, 24859021, 29724976, 27025683, 21619378, 25399932, 27075771, 29049823, 30592178, 29292049, 34782856, 20006333, Singhal2022, 31491741, 24518357, 32719484, 34011801, 29802317, 21146822, 27206942, 34037665, 34848321, 26632531, 25014035, 28179607, 33533259, 34408116, Pham2021, 34526433, 34176852, 25962062, 26374825, 34948399, 35480308)

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

Last Updated: Apr 20, 2024