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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190488CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
no assertion criteria provided
Uncertain significance
(Jun 1, 2014) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

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

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

Last Updated: May 7, 2024