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NM_002658.6(PLAU):c.467dup (p.Pro157fs) AND Quebec platelet disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 7, 2021
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:
RCV002266808.1

Allele description [Variation Report for NM_002658.6(PLAU):c.467dup (p.Pro157fs)]

NM_002658.6(PLAU):c.467dup (p.Pro157fs)

Genes:
LOC126860960:BRD4-independent group 4 enhancer GRCh37_chr10:75672789-75673988 [Gene]
C10orf55:chromosome 10 putative open reading frame 55 [Gene - HGNC]
PLAU:plasminogen activator, urokinase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_002658.6(PLAU):c.467dup (p.Pro157fs)
HGVS:
  • NC_000010.11:g.73913545dup
  • NG_011904.1:g.7442dup
  • NM_001145031.3:c.416dup
  • NM_001319191.2:c.209dup
  • NM_002658.6:c.467dupMANE SELECT
  • NP_001138503.2:p.Pro140fs
  • NP_001306120.2:p.Pro71fs
  • NP_002649.2:p.Pro157fs
  • LRG_593:g.7442dup
  • NC_000010.10:g.75673303dup
  • NM_002658.5:c.467dup
Protein change:
P140fs
Links:
dbSNP: rs1435611170
NCBI 1000 Genomes Browser:
rs1435611170
Molecular consequence:
  • NM_001145031.3:c.416dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319191.2:c.209dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002658.6:c.467dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Quebec platelet disorder (QPD)
Synonyms:
Factor V Quebec; BLEEDING DISORDER, PLATELET-TYPE, 5
Identifiers:
MONDO: MONDO:0011136; MedGen: C1866423; Orphanet: 220436; OMIM: 601709

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002548921New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Oct 7, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548921.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The heterozygous one nucleotide duplication c.467dup, p.Pro157AlafsTer22 identified in exon 7 (of 11) of the PLAU gene has not been reported in affected individuals in the literature. The variant alters the wild-type translational reading frame and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant has one heterozygous individual in the gnomAD(v3) database, suggesting it is not a common benign variant in the populations represented in that database. Loss of function variants in the PLAU gene has not been associated with Quebec platelet disorder. Based on the available evidence, the c.467dup, p.Pro157AlafsTer22 variant identified in the PLAU gene is reported as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023