NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) AND Obesity due to prohormone convertase I deficiency

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000342685.5

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

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

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.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_001177875.2: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_001177875.2:c.1852C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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RecName: Full=Ankyrin repeat and SOCS box protein 17; Short=ASB-17
RecName: Full=Ankyrin repeat and SOCS box protein 17; Short=ASB-17
gi|122146095|sp|Q32KY8.1|ASB17_BOVI

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000459160	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000459160

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000459160.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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