NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) AND Proprotein convertase 1/3 deficiency

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000342685.1

Allele description [Variation Report for NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu)]

NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu)

Genes:
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.1993C>G (p.Gln665Glu)
HGVS:
  • NC_000005.10:g.96393270G>C
  • NG_021161.1:g.45012C>G
  • NM_000439.5:c.1993C>GMANE SELECT
  • NM_001177875.1:c.1852C>G
  • NP_000430.3:p.Gln665Glu
  • NP_001171346.1:p.Gln618Glu
  • NC_000005.9:g.95728974G>C
  • NM_000439.4:c.1993C>G
  • P29120:p.Gln665Glu
Protein change:
Q618E
Links:
UniProtKB: P29120#VAR_013908; dbSNP: rs6234
NCBI 1000 Genomes Browser:
rs6234
Molecular consequence:
  • NM_000439.5:c.1993C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177875.1:c.1852C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Proprotein convertase 1/3 deficiency
Synonyms:
OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES
Identifiers:
MONDO: MONDO:0010961; MedGen: C1833053; Orphanet: 71528; OMIM: 600955

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000459160Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000459160.2

#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: Jan 16, 2021

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