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NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs) AND Protein S deficiency disease

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002245347.3

Allele description [Variation Report for NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs)]

NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs)

Gene:
PROS1:protein S [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3q11.1
Genomic location:
Preferred name:
NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs)
HGVS:
  • NC_000003.12:g.93877071GT[1]
  • NG_009813.1:g.102017AC[1]
  • NM_000313.4:c.1764_1765delMANE SELECT
  • NM_001314077.1:c.1860_1861delAC
  • NM_001314077.2:c.1860_1861del
  • NP_000304.2:p.Pro589fs
  • NP_001301006.1:p.Pro621fs
  • LRG_572t1:c.1764_1765del
  • LRG_572t2:c.1860_1861del
  • LRG_572:g.102017AC[1]
  • NC_000003.11:g.93595915GT[1]
  • NM_000313.3:c.1764_1765delAC
Protein change:
P589fs
Links:
dbSNP: rs2107125195
NCBI 1000 Genomes Browser:
rs2107125195
Molecular consequence:
  • NM_000313.4:c.1764_1765del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001314077.2:c.1860_1861del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Protein S deficiency disease
Synonyms:
Protein S deficiency
Identifiers:
MONDO: MONDO:0002304; MeSH: D018455; MedGen: C0242666

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002515537ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Pathogenicunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515537.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024