U.S. flag

An official website of the United States government

NM_000312.4(PROC):c.925G>A (p.Ala309Thr) AND Thrombophilia due to protein C deficiency, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 21, 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:
RCV000000697.3

Allele description [Variation Report for NM_000312.4(PROC):c.925G>A (p.Ala309Thr)]

NM_000312.4(PROC):c.925G>A (p.Ala309Thr)

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.925G>A (p.Ala309Thr)
Other names:
A267T
HGVS:
  • NC_000002.12:g.127428485G>A
  • NG_016323.1:g.15066G>A
  • NM_000312.4:c.925G>AMANE SELECT
  • NM_001375602.1:c.1108G>A
  • NM_001375603.1:c.1090G>A
  • NM_001375604.1:c.988G>A
  • NM_001375605.1:c.1027G>A
  • NM_001375606.1:c.1093G>A
  • NM_001375607.1:c.1111G>A
  • NM_001375608.1:c.868G>A
  • NM_001375609.1:c.901G>A
  • NM_001375610.1:c.919G>A
  • NM_001375611.1:c.925G>A
  • NM_001375613.1:c.925G>A
  • NP_000303.1:p.Ala309Thr
  • NP_000303.1:p.Ala309Thr
  • NP_001362531.1:p.Ala370Thr
  • NP_001362532.1:p.Ala364Thr
  • NP_001362533.1:p.Ala330Thr
  • NP_001362534.1:p.Ala343Thr
  • NP_001362535.1:p.Ala365Thr
  • NP_001362536.1:p.Ala371Thr
  • NP_001362537.1:p.Ala290Thr
  • NP_001362538.1:p.Ala301Thr
  • NP_001362539.1:p.Ala307Thr
  • NP_001362540.1:p.Ala309Thr
  • NP_001362542.1:p.Ala309Thr
  • LRG_599t1:c.925G>A
  • LRG_599:g.15066G>A
  • LRG_599p1:p.Ala309Thr
  • NC_000002.11:g.128186061G>A
  • NM_000312.3:c.925G>A
  • P04070:p.Ala309Thr
Protein change:
A290T; ALA267THR
Links:
UniProtKB: P04070#VAR_006684; OMIM: 612283.0007; dbSNP: rs121918146
NCBI 1000 Genomes Browser:
rs121918146
Molecular consequence:
  • NM_000312.4:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375602.1:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375603.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375604.1:c.988G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375605.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375606.1:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375607.1:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375608.1:c.868G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375609.1:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375610.1:c.919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375611.1:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375613.1:c.925G>A - 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

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
SCV000020847OMIM
no assertion criteria provided
Pathogenic
(Mar 21, 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

Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis.

Conard J, Horellou MH, van Dreden P, Samama M, Reitsma PH, Poort S, Bertina RM.

Lancet. 1992 Mar 21;339(8795):743-4. No abstract available.

PubMed [citation]
PMID:
1347608

Details of each submission

From OMIM, SCV000020847.2

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

Description

Conard et al. (1992) described a 57-year-old woman with autosomal recessive thrombophilia (THPH4; 612304) who had episodes of deep vein thrombosis at ages 45, 52, and 54; each time she had skin necrosis at the start of anticoagulant treatment. Complete sequencing of the coding regions of the PROC gene showed homozygosity for an ala267-to-thr (A267T) substitution. She had been symptom-free until age 45 despite an appendectomy and 3 pregnancies. Her parents were cousins; her daughter, aged 31 years, was heterozygous for the mutation and remained symptom-free despite 2 pregnancies and 6 years of estrogen-progestagen treatment.

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

Last Updated: Sep 29, 2024