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NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu) AND Developmental and epileptic encephalopathy, 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 19, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001194605.1

Allele description [Variation Report for NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu)]

NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu)

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.1153C>G (p.Gln385Glu)
HGVS:
  • NC_000023.11:g.100407445G>C
  • NG_021319.1:g.7829C>G
  • NM_001105243.2:c.1153C>G
  • NM_001184880.2:c.1153C>GMANE SELECT
  • NM_020766.3:c.1153C>G
  • NP_001098713.1:p.Gln385Glu
  • NP_001171809.1:p.Gln385Glu
  • NP_065817.2:p.Gln385Glu
  • LRG_843t1:c.1153C>G
  • LRG_843:g.7829C>G
  • LRG_843p1:p.Gln385Glu
  • NC_000023.10:g.99662443G>C
Protein change:
Q385E
Links:
dbSNP: rs1928405180
NCBI 1000 Genomes Browser:
rs1928405180
Molecular consequence:
  • NM_001105243.2:c.1153C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184880.2:c.1153C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020766.3:c.1153C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 9 (DEE9)
Synonyms:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; JUBERG-HELLMAN SYNDROME; PCDH19-Related X-Linked Female-Limited Epilepsy with Mental Retardation; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010246; MedGen: C1848137; Orphanet: 2076; OMIM: 300088

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001364257Laboratory of Medical Genetics, National & Kapodistrian University of Athens
no assertion criteria provided
Pathogenic
(Feb 19, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV001364257.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023