NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) AND Early infantile epileptic encephalopathy 9

Clinical significance:Benign (Last evaluated: Dec 7, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000233996.8

Allele description [Variation Report for NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)]

NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)

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.2796C>T (p.Asn932=)
Other names:
p.N885N:AAC>AAT
HGVS:
  • NC_000023.11:g.100341955G>A
  • NG_021319.1:g.73319C>T
  • NM_001105243.2:c.2655C>T
  • NM_001184880.2:c.2796C>TMANE SELECT
  • NM_020766.3:c.2652C>T
  • NP_001098713.1:p.Asn885=
  • NP_001171809.1:p.Asn932=
  • NP_065817.2:p.Asn884=
  • LRG_843t1:c.2796C>T
  • LRG_843:g.73319C>T
  • LRG_843p1:p.Asn932=
  • NC_000023.10:g.99596953G>A
  • NM_001105243.1:c.2655C>T
  • NM_001184880.1:c.2796C>T
Links:
dbSNP: rs193148631
NCBI 1000 Genomes Browser:
rs193148631
Molecular consequence:
  • NM_001105243.2:c.2655C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001184880.2:c.2796C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020766.3:c.2652C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Early infantile 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000286297Invitaecriteria provided, single submitter
Benign
(Dec 7, 2020)
germlineclinical testing

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

SCV000734796Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000286297.7

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734796.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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