NM_000313.4(PROS1):c.946C>T (p.Arg316Cys) AND Thrombophilia due to protein S deficiency, autosomal dominant

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 1, 2014
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:: RCV000148751.3

Allele description [Variation Report for NM_000313.4(PROS1):c.946C>T (p.Arg316Cys)]

NM_000313.4(PROS1):c.946C>T (p.Arg316Cys)

Gene:

PROS1:protein S [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q11.1

Genomic location:

Preferred name:

NM_000313.4(PROS1):c.946C>T (p.Arg316Cys)

HGVS:

NC_000003.12:g.93896595G>A
NG_009813.1:g.82496C>T
NM_000313.4:c.946C>TMANE SELECT
NM_001314077.2:c.1042C>T
NP_000304.2:p.Arg316Cys
NP_000304.2:p.Arg316Cys
NP_001301006.1:p.Arg348Cys
LRG_572t1:c.946C>T
LRG_572:g.82496C>T
LRG_572p1:p.Arg316Cys
NC_000003.11:g.93615439G>A
NM_000313.3:c.946C>T

Protein change:

R316C

Links:

dbSNP: rs373983977

NCBI 1000 Genomes Browser:

rs373983977

Molecular consequence:

NM_000313.4:c.946C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001314077.2:c.1042C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Identifiers:: MONDO: MONDO:0012868; MedGen: C3278211; Orphanet: 743; OMIM: 612336

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000190488	CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation	no assertion criteria provided	Uncertain significance (Jun 1, 2014)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000190488

CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation

no assertion criteria provided

Uncertain significance
(Jun 1, 2014)

germline

research

Help

Summary from all submissions

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

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190488.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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