U.S. flag

An official website of the United States government

NM_000312.4(PROC):c.30C>T (p.Phe10=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Feb 22, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV002225658.7

Allele description [Variation Report for NM_000312.4(PROC):c.30C>T (p.Phe10=)]

NM_000312.4(PROC):c.30C>T (p.Phe10=)

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.30C>T (p.Phe10=)
Other names:
p.Phe10=
HGVS:
  • NC_000002.12:g.127419972C>T
  • NG_016323.1:g.6553C>T
  • NM_000312.4:c.30C>TMANE SELECT
  • NM_001375602.1:c.213C>T
  • NM_001375603.1:c.93C>T
  • NM_001375604.1:c.93C>T
  • NM_001375605.1:c.30C>T
  • NM_001375606.1:c.93C>T
  • NM_001375607.1:c.149C>T
  • NM_001375608.1:c.30C>T
  • NM_001375609.1:c.47-1311C>T
  • NM_001375610.1:c.30C>T
  • NM_001375611.1:c.30C>T
  • NM_001375613.1:c.30C>T
  • NP_000303.1:p.Phe10=
  • NP_000303.1:p.Phe10=
  • NP_001362531.1:p.Phe71=
  • NP_001362532.1:p.Phe31=
  • NP_001362533.1:p.Phe31=
  • NP_001362534.1:p.Phe10=
  • NP_001362535.1:p.Phe31=
  • NP_001362536.1:p.Ser50Leu
  • NP_001362537.1:p.Phe10=
  • NP_001362539.1:p.Phe10=
  • NP_001362540.1:p.Phe10=
  • NP_001362542.1:p.Phe10=
  • LRG_599t1:c.30C>T
  • LRG_599:g.6553C>T
  • LRG_599p1:p.Phe10=
  • NC_000002.11:g.128177548C>T
  • NM_000312.3:c.30C>T
Protein change:
S50L
Links:
dbSNP: rs148490199
NCBI 1000 Genomes Browser:
rs148490199
Molecular consequence:
  • NM_001375609.1:c.47-1311C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375607.1:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000312.4:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375602.1:c.213C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375603.1:c.93C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375604.1:c.93C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375605.1:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375606.1:c.93C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375608.1:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375610.1:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375611.1:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375613.1:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
5

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV002504232GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jan 3, 2020) 		germlineclinical testing

Citation Link,

SCV002541856Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 22, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot providednot providednot providedclinical testing
not providedgermlineyesnot 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 GeneDx, SCV002504232.2

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

Description

See Variant Classification Assertion Criteria.

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV002541856.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

Last Updated: Oct 13, 2024