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NM_000439.5(PCSK1):c.*1854T>A AND Monogenic Non-Syndromic Obesity

Germline classification:
Uncertain significance (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:
RCV000270498.5

Allele description [Variation Report for NM_000439.5(PCSK1):c.*1854T>A]

NM_000439.5(PCSK1):c.*1854T>A

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.*1854T>A
HGVS:
  • NC_000005.10:g.96391147A>T
  • NG_021161.1:g.47135T>A
  • NM_000439.5:c.*1854T>AMANE SELECT
  • NM_001177875.2:c.*1854T>A
  • NC_000005.9:g.95726851A>T
  • NM_000439.4:c.*1854T>A
Links:
dbSNP: rs886060877
NCBI 1000 Genomes Browser:
rs886060877
Molecular consequence:
  • NM_000439.5:c.*1854T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001177875.2:c.*1854T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Monogenic Non-Syndromic Obesity
Identifiers:
MedGen: CN239457

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000459107Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000459107.2

#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: Oct 14, 2023