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

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 18, 2021)
Last evaluated:
May 26, 2021
Accession:
VCV000354640.2
Variation ID:
354640
Description:
single nucleotide variant
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NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu)

Allele ID
298408
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q15
Genomic location
5: 96393270 (GRCh38) GRCh38 UCSC
5: 95728974 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P29120:p.Gln665Glu
NC_000005.10:g.96393270G>C
NC_000005.9:g.95728974G>C
... more HGVS
Protein change
Q665E, Q618E
Other names
-
Canonical SPDI
NC_000005.10:96393269:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.25919 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.24430
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.24958
1000 Genomes Project 0.25919
The Genome Aggregation Database (gnomAD), exomes 0.26568
Trans-Omics for Precision Medicine (TOPMed) 0.24326
Exome Aggregation Consortium (ExAC) 0.26877
Links
ClinGen: CA3350069
UniProtKB: P29120#VAR_013908
dbSNP: rs6234
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000342685.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000397598.1
Benign 1 criteria provided, single submitter Dec 19, 2017 RCV000730963.1
Benign 1 criteria provided, single submitter May 26, 2021 RCV001672668.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LOC101929710 - - - GRCh38 - 139
PCSK1 - - GRCh38
GRCh37
- 153

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 19, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000858732.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Monogenic Non-Syndromic Obesity
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459161.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Proprotein Convertase-1 Deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459160.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(May 26, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001891088.1
Submitted: (Sep 18, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 28271036, 23383060, 25625282, 24932808)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PCSK1 - - - -

Text-mined citations for rs6234...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 18, 2021