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NM_001184880.2(PCDH19):c.513C>G (p.Asn171Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2019
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:
RCV001752007.2

Allele description [Variation Report for NM_001184880.2(PCDH19):c.513C>G (p.Asn171Lys)]

NM_001184880.2(PCDH19):c.513C>G (p.Asn171Lys)

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.513C>G (p.Asn171Lys)
HGVS:
  • NC_000023.11:g.100408085G>C
  • NG_021319.1:g.7189C>G
  • NM_001105243.2:c.513C>G
  • NM_001184880.2:c.513C>GMANE SELECT
  • NM_020766.3:c.513C>G
  • NP_001098713.1:p.Asn171Lys
  • NP_001171809.1:p.Asn171Lys
  • NP_065817.2:p.Asn171Lys
  • LRG_843t1:c.513C>G
  • LRG_843:g.7189C>G
  • LRG_843p1:p.Asn171Lys
  • NC_000023.10:g.99663083G>C
  • NM_001184880.1:c.513C>G
Protein change:
N171K
Links:
dbSNP: rs749602848
NCBI 1000 Genomes Browser:
rs749602848
Molecular consequence:
  • NM_001105243.2:c.513C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184880.2:c.513C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020766.3:c.513C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001986713GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 14, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001986713.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic [(Stenson et al., 2014; other references)]; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 24, 2023