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NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 20, 2019
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:
RCV001199427.1

Allele description [Variation Report for NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys)]

NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys)

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.1469A>G (p.Tyr490Cys)
HGVS:
  • NC_000023.11:g.100407129T>C
  • NG_021319.1:g.8145A>G
  • NM_001105243.2:c.1469A>G
  • NM_001184880.2:c.1469A>GMANE SELECT
  • NM_020766.3:c.1469A>G
  • NP_001098713.1:p.Tyr490Cys
  • NP_001171809.1:p.Tyr490Cys
  • NP_065817.2:p.Tyr490Cys
  • LRG_843t1:c.1469A>G
  • LRG_843:g.8145A>G
  • LRG_843p1:p.Tyr490Cys
  • NC_000023.10:g.99662127T>C
Protein change:
Y490C
Links:
dbSNP: rs1555985142
NCBI 1000 Genomes Browser:
rs1555985142
Molecular consequence:
  • NM_001105243.2:c.1469A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184880.2:c.1469A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020766.3:c.1469A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Non-ketotic hyperglycinemia
Synonyms:
Glycine encephalopathy; Nonketotic hyperglycinemia
Identifiers:
MONDO: MONDO:0011612; MedGen: C0751748; Orphanet: 407; OMIM: PS605899; Human Phenotype Ontology: HP:0008288
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
SCV001147061Neurogenetics Research Program, University of Adelaide
no assertion criteria provided
Likely pathogenic
(Dec 20, 2019) 		paternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Neurogenetics Research Program, University of Adelaide, SCV001147061.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024