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NM_000312.4(PROC):c.118C>T (p.Arg40Cys) AND PROC-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 30, 2023
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:
RCV003973212.2

Allele description [Variation Report for NM_000312.4(PROC):c.118C>T (p.Arg40Cys)]

NM_000312.4(PROC):c.118C>T (p.Arg40Cys)

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.118C>T (p.Arg40Cys)
HGVS:
  • NC_000002.12:g.127421330C>T
  • NG_016323.1:g.7911C>T
  • NM_000312.3:c.118C>T
  • NM_000312.4:c.118C>TMANE SELECT
  • NM_001375602.1:c.301C>T
  • NM_001375603.1:c.181C>T
  • NM_001375604.1:c.181C>T
  • NM_001375605.1:c.118C>T
  • NM_001375606.1:c.181C>T
  • NM_001375607.1:c.202C>T
  • NM_001375608.1:c.118C>T
  • NM_001375609.1:c.94C>T
  • NM_001375610.1:c.112C>T
  • NM_001375611.1:c.118C>T
  • NM_001375613.1:c.118C>T
  • NP_000303.1:p.Arg40Cys
  • NP_001362531.1:p.Arg101Cys
  • NP_001362532.1:p.Arg61Cys
  • NP_001362533.1:p.Arg61Cys
  • NP_001362534.1:p.Arg40Cys
  • NP_001362535.1:p.Arg61Cys
  • NP_001362536.1:p.Arg68Cys
  • NP_001362537.1:p.Arg40Cys
  • NP_001362538.1:p.Arg32Cys
  • NP_001362539.1:p.Arg38Cys
  • NP_001362540.1:p.Arg40Cys
  • NP_001362542.1:p.Arg40Cys
  • LRG_599t1:c.118C>T
  • LRG_599:g.7911C>T
  • NC_000002.11:g.128178906C>T
Protein change:
R101C
Links:
dbSNP: rs199514227
NCBI 1000 Genomes Browser:
rs199514227
Molecular consequence:
  • NM_000312.4:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375602.1:c.301C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375603.1:c.181C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375604.1:c.181C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375605.1:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375606.1:c.181C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375607.1:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375608.1:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375609.1:c.94C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375610.1:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375611.1:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375613.1:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PROC-related disorder
Synonyms:
PROC-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004791723PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Oct 30, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004791723.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PROC c.118C>T variant is predicted to result in the amino acid substitution p.Arg40Cys. This variant, also referred to as c.1381C>T (p.Arg-3Cys) and Murcia-2, has been reported one family with three affected individuals with impaired protein C activity and in a second family with two affected individuals (Gandrille et al 1994. PubMed ID: 7951255; Table S2 Martos L et al 2019. PubMed ID: 31254973). This variant is reported in 0.0040% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-128178906-C-T). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024