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NM_000944.4(PPP3CA):c.1255_1256delAG (p.Ser419Cysfs)

Variation ID: Help
496636
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Feb 11, 2018
Number of submission(s):
1
Condition(s):
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000944.4(PPP3CA):c.1255_1256delAG (p.Ser419Cysfs)

Allele ID:
488121
Variant type:
Deletion
Cytogenetic location:
4q24
Genomic location:
  • Chr4: 101032350 - 101032351 (on Assembly GRCh38)
  • Chr4: 101953507 - 101953508 (on Assembly GRCh37)
HGVS:
  • NP_000935.1:p.Ser419Cysfs
  • NC_000004.12:g.101032350_101032351delCT (GRCh38)
  • NC_000004.11:g.101953507_101953508delCT (GRCh37)
  • NM_000944.4:c.1255_1256del
Links:
dbSNP: rs1553920383
NCBI 1000 Genomes Browser:
rs1553920383
Molecular consequence:
NM_000944.4:c.1255_1256del: frameshift variant [Sequence Ontology SO:0001589]

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Feb 11, 2018)
no assertion criteria providedclinical testing
  • EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 (Autosomal dominant inheritance)[MedGen | OMIM]
de novoThe Molecular Genetic Diagnosis Center,Children’s Hospital of Fudan UniversitySCV000692475.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
The Molecular Genetic Diagnosis Center,Children’s Hospital of Fudan Universitynot provided1de novonot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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