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NM_000312.4(PROC):c.678+10G>A AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 14, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001823725.1

Allele description [Variation Report for NM_000312.4(PROC):c.678+10G>A]

NM_000312.4(PROC):c.678+10G>A

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.678+10G>A
HGVS:
  • NC_000002.12:g.127426237G>A
  • NG_016323.1:g.12818G>A
  • NM_000312.4:c.678+10G>AMANE SELECT
  • NM_001375602.1:c.861+10G>A
  • NM_001375603.1:c.843+10G>A
  • NM_001375604.1:c.741+10G>A
  • NM_001375605.1:c.780+10G>A
  • NM_001375606.1:c.846+10G>A
  • NM_001375607.1:c.864+10G>A
  • NM_001375608.1:c.621+10G>A
  • NM_001375609.1:c.654+10G>A
  • NM_001375610.1:c.672+10G>A
  • NM_001375611.1:c.678+10G>A
  • NM_001375613.1:c.678+10G>A
  • LRG_599t1:c.678+10G>A
  • LRG_599:g.12818G>A
  • NC_000002.11:g.128183813G>A
  • NM_000312.3:c.678+10G>A
Links:
dbSNP: rs776905824
NCBI 1000 Genomes Browser:
rs776905824
Molecular consequence:
  • NM_000312.4:c.678+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375602.1:c.861+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375603.1:c.843+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375604.1:c.741+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375605.1:c.780+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375606.1:c.846+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375607.1:c.864+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375608.1:c.621+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375609.1:c.654+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375610.1:c.672+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375611.1:c.678+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375613.1:c.678+10G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002073440Phosphorus, Inc.
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Jan 14, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Phosphorus, Inc., SCV002073440.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is located 10bp away from the canonical splice-site in intron 7 of the PROC gene (transcript: NM_000312.3). This variant has an entry in ClinVar (331108) NM_000312.4(PROC):c.678+10G>A. This variant occurred in gnomAD with a total MAF of 0.0041% and the highest MAF of 0.0327% in the African population. This position is not conserved. In silico splicing algorithms predicted that this variant will not have an impact on splicing (not found in scSNV). The variant has not occurred in the literature in association with disease. Considering the evidence above, it has been classified as Likely Benign.

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

Last Updated: Feb 28, 2024