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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002515537	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	no assertion criteria provided	Pathogenic	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002515537

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

no assertion criteria provided

Pathogenic

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

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

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

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

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine