NM_000312.4(PROC):c.547T>C (p.Cys183Arg) AND Thrombophilia due to protein C deficiency, autosomal dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2020
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:
RCV002221178.2

Allele description [Variation Report for NM_000312.4(PROC):c.547T>C (p.Cys183Arg)]

NM_000312.4(PROC):c.547T>C (p.Cys183Arg)

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.547T>C (p.Cys183Arg)
HGVS:
  • NC_000002.12:g.127426096T>C
  • NG_016323.1:g.12677T>C
  • NM_000312.4:c.547T>CMANE SELECT
  • NM_001375602.1:c.730T>C
  • NM_001375603.1:c.712T>C
  • NM_001375604.1:c.610T>C
  • NM_001375605.1:c.649T>C
  • NM_001375606.1:c.715T>C
  • NM_001375607.1:c.733T>C
  • NM_001375608.1:c.490T>C
  • NM_001375609.1:c.523T>C
  • NM_001375610.1:c.541T>C
  • NM_001375611.1:c.547T>C
  • NM_001375613.1:c.547T>C
  • NP_000303.1:p.Cys183Arg
  • NP_001362531.1:p.Cys244Arg
  • NP_001362532.1:p.Cys238Arg
  • NP_001362533.1:p.Cys204Arg
  • NP_001362534.1:p.Cys217Arg
  • NP_001362535.1:p.Cys239Arg
  • NP_001362536.1:p.Cys245Arg
  • NP_001362537.1:p.Cys164Arg
  • NP_001362538.1:p.Cys175Arg
  • NP_001362539.1:p.Cys181Arg
  • NP_001362540.1:p.Cys183Arg
  • NP_001362542.1:p.Cys183Arg
  • LRG_599t1:c.547T>C
  • LRG_599:g.12677T>C
  • NC_000002.11:g.128183672T>C
  • NM_000312.3:c.547T>C
Protein change:
C164R
Links:
dbSNP: rs748920874
NCBI 1000 Genomes Browser:
rs748920874
Molecular consequence:
  • NM_000312.4:c.547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375602.1:c.730T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375603.1:c.712T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375604.1:c.610T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375605.1:c.649T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375606.1:c.715T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375607.1:c.733T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375608.1:c.490T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375609.1:c.523T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375610.1:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375611.1:c.547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375613.1:c.547T>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002498586ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2020) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, Freson K.

J Thromb Haemost. 2021 Oct;19(10):2612-2617. doi: 10.1111/jth.15459. Epub 2021 Aug 5. Erratum in: J Thromb Haemost. 2023 Apr;21(4):1067. doi: 10.1016/j.jtha.2023.01.021.

PubMed [citation]
PMID:
34355501
PMCID:
PMC9291976

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002498586.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024