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NM_001184880.2(PCDH19):c.805del (p.Thr269fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 23, 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:
RCV000188387.1

Allele description [Variation Report for NM_001184880.2(PCDH19):c.805del (p.Thr269fs)]

NM_001184880.2(PCDH19):c.805del (p.Thr269fs)

Gene:
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_001184880.2(PCDH19):c.805del (p.Thr269fs)
HGVS:
  • NC_000023.11:g.100407793del
  • NG_021319.1:g.7481del
  • NM_001105243.2:c.805del
  • NM_001184880.2:c.805delMANE SELECT
  • NM_020766.3:c.805del
  • NP_001098713.1:p.Thr269fs
  • NP_001171809.1:p.Thr269fs
  • NP_065817.2:p.Thr269fs
  • LRG_843t1:c.805del
  • LRG_843:g.7481del
  • LRG_843p1:p.Thr269fs
  • NC_000023.10:g.99662791del
  • NM_001105243.1:c.805delA
  • p.T269PfsX36
Protein change:
T269fs
Links:
dbSNP: rs796052827
NCBI 1000 Genomes Browser:
rs796052827
Molecular consequence:
  • NM_001105243.2:c.805del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001184880.2:c.805del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020766.3:c.805del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241999GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 23, 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, SCV000241999.3

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

Description

This variant is denoted c.805delA: p.Thr269ProfsX36 (T269PfsX36) in exon 1 of the PCDH19 gene (NM_001105243.1). The surrounding sequence with the base that is deleted in braces is: GGGC{A}CCAA. The c.805delA mutation in the PCDH19 gene causes a frameshift starting with codon Threonine 269, changes this amino acid to a Proline residue and creates a premature Stop codon at position 36 of the new reading frame, denoted p.Thr269ProfsX36. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, two other frameshift mutations in this exon (c.772_773delAT and c.730dupG) have been reported in association with PCDH19-related disorders. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of a PCDH19 related disorder. The variant is found in INFANT-EPI panel(s).

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

Last Updated: Sep 29, 2024