U.S. flag

An official website of the United States government

NM_000312.4(PROC):c.673T>C (p.Trp225Arg) AND Thrombophilia due to protein C deficiency, autosomal dominant

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 21, 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:
RCV001801306.2

Allele description [Variation Report for NM_000312.4(PROC):c.673T>C (p.Trp225Arg)]

NM_000312.4(PROC):c.673T>C (p.Trp225Arg)

Gene:
PROC:protein C, inactivator of coagulation factors Va and VIIIa [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q14.3
Genomic location:
Preferred name:
NM_000312.4(PROC):c.673T>C (p.Trp225Arg)
HGVS:
  • NC_000002.12:g.127426222T>C
  • NG_016323.1:g.12803T>C
  • NM_000312.4:c.673T>CMANE SELECT
  • NM_001375602.1:c.856T>C
  • NM_001375603.1:c.838T>C
  • NM_001375604.1:c.736T>C
  • NM_001375605.1:c.775T>C
  • NM_001375606.1:c.841T>C
  • NM_001375607.1:c.859T>C
  • NM_001375608.1:c.616T>C
  • NM_001375609.1:c.649T>C
  • NM_001375610.1:c.667T>C
  • NM_001375611.1:c.673T>C
  • NM_001375613.1:c.673T>C
  • NP_000303.1:p.Trp225Arg
  • NP_001362531.1:p.Trp286Arg
  • NP_001362532.1:p.Trp280Arg
  • NP_001362533.1:p.Trp246Arg
  • NP_001362534.1:p.Trp259Arg
  • NP_001362535.1:p.Trp281Arg
  • NP_001362536.1:p.Trp287Arg
  • NP_001362537.1:p.Trp206Arg
  • NP_001362538.1:p.Trp217Arg
  • NP_001362539.1:p.Trp223Arg
  • NP_001362540.1:p.Trp225Arg
  • NP_001362542.1:p.Trp225Arg
  • LRG_599:g.12803T>C
  • NC_000002.11:g.128183798T>C
Protein change:
W206R
Links:
dbSNP: rs1277271891
NCBI 1000 Genomes Browser:
rs1277271891
Molecular consequence:
  • NM_000312.4:c.673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375602.1:c.856T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375603.1:c.838T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375604.1:c.736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375605.1:c.775T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375606.1:c.841T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375607.1:c.859T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375608.1:c.616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375609.1:c.649T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375610.1:c.667T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375611.1:c.673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375613.1:c.673T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thrombophilia due to protein C deficiency, autosomal dominant
Synonyms:
PROC DEFICIENCY, AUTOSOMAL DOMINANT; PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Identifiers:
MONDO: MONDO:0008316; MedGen: C2674321; Orphanet: 745; OMIM: 176860

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002047515Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Likely pathogenic
(Apr 21, 2021) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV002047515.1

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

Last Updated: Feb 4, 2024