U.S. flag

An official website of the United States government

NM_000312.4(PROC):c.595C>T (p.Arg199Ter) AND Thrombophilia due to protein C deficiency, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2023
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:
RCV004031230.2

Allele description [Variation Report for NM_000312.4(PROC):c.595C>T (p.Arg199Ter)]

NM_000312.4(PROC):c.595C>T (p.Arg199Ter)

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.595C>T (p.Arg199Ter)
HGVS:
  • NC_000002.12:g.127426144C>T
  • NG_016323.1:g.12725C>T
  • NM_000312.4:c.595C>TMANE SELECT
  • NM_001375602.1:c.778C>T
  • NM_001375603.1:c.760C>T
  • NM_001375604.1:c.658C>T
  • NM_001375605.1:c.697C>T
  • NM_001375606.1:c.763C>T
  • NM_001375607.1:c.781C>T
  • NM_001375608.1:c.538C>T
  • NM_001375609.1:c.571C>T
  • NM_001375610.1:c.589C>T
  • NM_001375611.1:c.595C>T
  • NM_001375613.1:c.595C>T
  • NP_000303.1:p.Arg199Ter
  • NP_001362531.1:p.Arg260Ter
  • NP_001362532.1:p.Arg254Ter
  • NP_001362533.1:p.Arg220Ter
  • NP_001362534.1:p.Arg233Ter
  • NP_001362535.1:p.Arg255Ter
  • NP_001362536.1:p.Arg261Ter
  • NP_001362537.1:p.Arg180Ter
  • NP_001362538.1:p.Arg191Ter
  • NP_001362539.1:p.Arg197Ter
  • NP_001362540.1:p.Arg199Ter
  • NP_001362542.1:p.Arg199Ter
  • LRG_599t1:c.595C>T
  • LRG_599:g.12725C>T
  • NC_000002.11:g.128183720C>T
  • NM_000312.3:c.595C>T
Protein change:
R180*
Links:
dbSNP: rs1456533664
NCBI 1000 Genomes Browser:
rs1456533664
Molecular consequence:
  • NM_000312.4:c.595C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375602.1:c.778C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375603.1:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375604.1:c.658C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375605.1:c.697C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375606.1:c.763C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375607.1:c.781C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375608.1:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375609.1:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375610.1:c.589C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375611.1:c.595C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375613.1:c.595C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Thrombophilia due to protein C deficiency, autosomal recessive
Synonyms:
PROC DEFICIENCY, AUTOSOMAL RECESSIVE; PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
Identifiers:
MONDO: MONDO:0012860; MedGen: C2676759; Orphanet: 745; OMIM: 612304

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
SCV005016510Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 30, 2023) 		biparentalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV005016510.1

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

Last Updated: Oct 20, 2024