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NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) AND Thrombophilia due to protein C deficiency, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 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:
RCV000000701.4

Allele description [Variation Report for NM_000312.4(PROC):c.1000G>A (p.Gly334Ser)]

NM_000312.4(PROC):c.1000G>A (p.Gly334Ser)

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.1000G>A (p.Gly334Ser)
Other names:
G292S
HGVS:
  • NC_000002.12:g.127428560G>A
  • NG_016323.1:g.15141G>A
  • NM_000312.4:c.1000G>AMANE SELECT
  • NM_001375602.1:c.1183G>A
  • NM_001375603.1:c.1165G>A
  • NM_001375604.1:c.1063G>A
  • NM_001375605.1:c.1102G>A
  • NM_001375606.1:c.1168G>A
  • NM_001375607.1:c.1186G>A
  • NM_001375608.1:c.943G>A
  • NM_001375609.1:c.976G>A
  • NM_001375610.1:c.994G>A
  • NM_001375611.1:c.1000G>A
  • NM_001375613.1:c.1000G>A
  • NP_000303.1:p.Gly334Ser
  • NP_000303.1:p.Gly334Ser
  • NP_001362531.1:p.Gly395Ser
  • NP_001362532.1:p.Gly389Ser
  • NP_001362533.1:p.Gly355Ser
  • NP_001362534.1:p.Gly368Ser
  • NP_001362535.1:p.Gly390Ser
  • NP_001362536.1:p.Gly396Ser
  • NP_001362537.1:p.Gly315Ser
  • NP_001362538.1:p.Gly326Ser
  • NP_001362539.1:p.Gly332Ser
  • NP_001362540.1:p.Gly334Ser
  • NP_001362542.1:p.Gly334Ser
  • LRG_599t1:c.1000G>A
  • LRG_599:g.15141G>A
  • LRG_599p1:p.Gly334Ser
  • NC_000002.11:g.128186136G>A
  • NM_000312.3:c.1000G>A
  • P04070:p.Gly334Ser
Protein change:
G315S; GLY292SER
Links:
UniProtKB: P04070#VAR_006691; OMIM: 612283.0011; dbSNP: rs121918150
NCBI 1000 Genomes Browser:
rs121918150
Molecular consequence:
  • NM_000312.4:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375602.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375603.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375604.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375605.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375606.1:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375607.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375608.1:c.943G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375609.1:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375610.1:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375611.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375613.1:c.1000G>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020851OMIM
no assertion criteria provided
Pathogenic
(Jun 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

Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C.

Yamamoto K, Matsushita T, Sugiura I, Takamatsu J, Iwasaki E, Wada H, Deguchi K, Shirakawa S, Saito H.

J Lab Clin Med. 1992 Jun;119(6):682-9.

PubMed [citation]
PMID:
1593215

Details of each submission

From OMIM, SCV000020851.3

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

Description

In a Japanese patient with recurrent thromboembolism and complete protein C deficiency (THPH4; 612304), whose parents were consanguineous, Yamamoto et al. (1992) identified a homozygous G-to-A transition in the PROC gene, resulting in a gly292-to-ser (G292S) substitution in the last exon coding for the catalytic domain of the protein. Gly292 was found to be invariably conserved in the serine protease superfamily to which protein C belongs. Functional expression studies in COS-7 cells showed decreased levels of protein C in the culture medium, but normal amounts of protein C in cell extracts, suggesting impaired secretion of mutant protein C.

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

Last Updated: Oct 13, 2024