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NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 12, 2018
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:
RCV001008861.1

Allele description [Variation Report for NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs)]

NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs)

Gene:
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs)
HGVS:
  • NC_000023.11:g.100407309_100407312del
  • NG_021319.1:g.7964_7967del
  • NM_001105243.2:c.1288_1291del
  • NM_001184880.2:c.1288_1291delMANE SELECT
  • NM_020766.3:c.1288_1291del
  • NP_001098713.1:p.Val430fs
  • NP_001171809.1:p.Val430fs
  • NP_065817.2:p.Val430fs
  • LRG_843t1:c.1288_1291del
  • LRG_843:g.7964_7967del
  • LRG_843p1:p.Val430fs
  • NC_000023.10:g.99662307_99662310del
  • NM_001184880.1:c.1288_1291delGTGC
Protein change:
V430fs
Links:
dbSNP: rs1602636466
NCBI 1000 Genomes Browser:
rs1602636466
Molecular consequence:
  • NM_001105243.2:c.1288_1291del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001184880.2:c.1288_1291del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020766.3:c.1288_1291del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001168666GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Mar 12, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001168666.1

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

Description

The c.1288_1291delGTGC pathogenic variant in the PCDH19 gene causes a frameshift starting with codon Valine 430, changes this amino acid to a Proline residue and creates a premature Stop codon at position 138 of the new reading frame, denoted p.Val430ProfsX138. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1288_1291delGTGC variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of a PCDH19-related disorder in this individual.

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

Last Updated: Apr 23, 2022