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NM_001184880.2(PCDH19):c.1625C>G (p.Ser542Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 28, 2014
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:
RCV000188372.1

Allele description [Variation Report for NM_001184880.2(PCDH19):c.1625C>G (p.Ser542Ter)]

NM_001184880.2(PCDH19):c.1625C>G (p.Ser542Ter)

Gene:
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_001184880.2(PCDH19):c.1625C>G (p.Ser542Ter)
Other names:
p.S542*:TCA>TGA
HGVS:
  • NC_000023.11:g.100406973G>C
  • NG_021319.1:g.8301C>G
  • NM_001105243.2:c.1625C>G
  • NM_001184880.2:c.1625C>GMANE SELECT
  • NM_020766.3:c.1625C>G
  • NP_001098713.1:p.Ser542Ter
  • NP_001171809.1:p.Ser542Ter
  • NP_065817.2:p.Ser542Ter
  • LRG_843t1:c.1625C>G
  • LRG_843:g.8301C>G
  • LRG_843p1:p.Ser542Ter
  • NC_000023.10:g.99661971G>C
  • NM_001105243.1:c.1625C>G
  • NM_001184880.1:c.1625C>G
Protein change:
S542*
Links:
dbSNP: rs796052817
NCBI 1000 Genomes Browser:
rs796052817
Molecular consequence:
  • NM_001105243.2:c.1625C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001184880.2:c.1625C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020766.3:c.1625C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241984GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 28, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241984.11

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

Description

This variant is denoted p.Ser542Stop (TCA>TGA): c.1625 C>G in exon 1 of the PCDH19 gene (NM_001105243.1). The Ser542Stop nonsense mutation in the PCDH19 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, its presence is consistent with a diagnosis of a PCDH19-related disorder. The variant is found in EPILEPSY panel(s).

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

Last Updated: Apr 23, 2022