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NM_174936.4(PCSK9):c.1539C>T (p.Asn513=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 17, 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:
RCV003323622.2

Allele description [Variation Report for NM_174936.4(PCSK9):c.1539C>T (p.Asn513=)]

NM_174936.4(PCSK9):c.1539C>T (p.Asn513=)

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.1539C>T (p.Asn513=)
HGVS:
  • NC_000001.11:g.55059521C>T
  • NG_009061.1:g.24975C>T
  • NM_001407240.1:c.1662C>T
  • NM_001407241.1:c.1581C>T
  • NM_001407242.1:c.1542C>T
  • NM_001407243.1:c.1482C>T
  • NM_001407244.1:c.1365C>T
  • NM_001407245.1:c.1347C>T
  • NM_001407246.1:c.1164C>T
  • NM_001407247.1:c.1181-1854C>T
  • NM_174936.4:c.1539C>TMANE SELECT
  • NP_001394169.1:p.Asn554=
  • NP_001394170.1:p.Asn527=
  • NP_001394171.1:p.Asn514=
  • NP_001394172.1:p.Asn494=
  • NP_001394173.1:p.Asn455=
  • NP_001394174.1:p.Asn449=
  • NP_001394175.1:p.Asn388=
  • NP_777596.2:p.Asn513=
  • NP_777596.2:p.Asn513=
  • LRG_275t1:c.1539C>T
  • LRG_275:g.24975C>T
  • LRG_275p1:p.Asn513=
  • NC_000001.10:g.55525194C>T
  • NM_174936.3:c.1539C>T
  • NR_110451.3:n.1820C>T
  • NR_176318.1:n.1513C>T
  • NR_176319.1:n.2098C>T
  • NR_176320.1:n.1952C>T
  • NR_176321.1:n.1777C>T
  • NR_176322.1:n.1732C>T
  • NR_176324.1:n.2039C>T
Links:
dbSNP: rs781492750
NCBI 1000 Genomes Browser:
rs781492750
Molecular consequence:
  • NM_001407247.1:c.1181-1854C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_110451.3:n.1820C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176318.1:n.1513C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176319.1:n.2098C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176320.1:n.1952C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176321.1:n.1777C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176322.1:n.1732C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176324.1:n.2039C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407240.1:c.1662C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407241.1:c.1581C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407242.1:c.1542C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407243.1:c.1482C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407244.1:c.1365C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407245.1:c.1347C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407246.1:c.1164C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_174936.4:c.1539C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004029945Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Jul 17, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004029945.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024