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NM_000312.4(PROC):c.902C>T (p.Ala301Val) AND Thrombophilia due to protein C deficiency, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 1992
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:
RCV000000695.4

Allele description [Variation Report for NM_000312.4(PROC):c.902C>T (p.Ala301Val)]

NM_000312.4(PROC):c.902C>T (p.Ala301Val)

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.902C>T (p.Ala301Val)
Other names:
A259V
HGVS:
  • NC_000002.12:g.127428462C>T
  • NG_016323.1:g.15043C>T
  • NM_000312.3:c.902C>T
  • NM_000312.4:c.902C>TMANE SELECT
  • NM_001375602.1:c.1085C>T
  • NM_001375603.1:c.1067C>T
  • NM_001375604.1:c.965C>T
  • NM_001375605.1:c.1004C>T
  • NM_001375606.1:c.1070C>T
  • NM_001375607.1:c.1088C>T
  • NM_001375608.1:c.845C>T
  • NM_001375609.1:c.878C>T
  • NM_001375610.1:c.896C>T
  • NM_001375611.1:c.902C>T
  • NM_001375613.1:c.902C>T
  • NP_000303.1:p.Ala301Val
  • NP_001362531.1:p.Ala362Val
  • NP_001362532.1:p.Ala356Val
  • NP_001362533.1:p.Ala322Val
  • NP_001362534.1:p.Ala335Val
  • NP_001362535.1:p.Ala357Val
  • NP_001362536.1:p.Ala363Val
  • NP_001362537.1:p.Ala282Val
  • NP_001362538.1:p.Ala293Val
  • NP_001362539.1:p.Ala299Val
  • NP_001362540.1:p.Ala301Val
  • NP_001362542.1:p.Ala301Val
  • LRG_599t1:c.902C>T
  • LRG_599:g.15043C>T
  • NC_000002.11:g.128186038C>T
  • P04070:p.Ala301Val
Protein change:
A282V; ALA259VAL
Links:
UniProtKB: P04070#VAR_006683; OMIM: 612283.0005; dbSNP: rs121918144
NCBI 1000 Genomes Browser:
rs121918144
Molecular consequence:
  • NM_000312.4:c.902C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375602.1:c.1085C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375603.1:c.1067C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375604.1:c.965C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375605.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375606.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375607.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375608.1:c.845C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375609.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375610.1:c.896C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375611.1:c.902C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375613.1:c.902C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020845OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 1992) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene.

Grundy CB, Schulman S, Krawczak M, Kobosko J, Kakkar VV, Cooper DN.

Hum Genet. 1992 Mar;88(5):586-8.

PubMed [citation]
PMID:
1348046

Details of each submission

From OMIM, SCV000020845.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Grundy et al. (1991) reported a Middle Eastern family with severe type I protein C deficiency and recurrent thrombosis (THPH4; 612304); DNA studies showed homozygosity for a C-to-T transition in exon 9 of the PROC gene, resulting in an ala259-to-val (A259V) substitution. There were 4 homozygotes in the extended kindred, 3 of whom were known to have consanguineous parents. The homozygotes had relatively late onset of symptoms; heterozygotes were symptom-free despite having protein C concentrations characteristic of patients with the dominant form of the disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 23, 2024