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NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 19, 2016
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:
RCV002318140.9

Allele description [Variation Report for NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp)]

NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp)

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.3157C>T (p.Arg1053Trp)
HGVS:
  • NC_000023.11:g.100296567G>A
  • NG_021319.1:g.118707C>T
  • NM_001105243.2:c.3016C>T
  • NM_001184880.2:c.3157C>TMANE SELECT
  • NM_020766.3:c.3013C>T
  • NP_001098713.1:p.Arg1006Trp
  • NP_001171809.1:p.Arg1053Trp
  • NP_065817.2:p.Arg1005Trp
  • LRG_843t1:c.3157C>T
  • LRG_843:g.118707C>T
  • LRG_843p1:p.Arg1053Trp
  • NC_000023.10:g.99551565G>A
  • NM_001184880.1:c.3157C>T
Protein change:
R1005W
Links:
dbSNP: rs774986147
NCBI 1000 Genomes Browser:
rs774986147
Molecular consequence:
  • NM_001105243.2:c.3016C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184880.2:c.3157C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020766.3:c.3013C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000851321Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 19, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000851321.5

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

Description

The p.R1053W variant (also known as c.3157C>T), located in coding exon 6 of the PCDH19 gene, results from a C to T substitution at nucleotide position 3157. The arginine at codon 1053 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: Nov 3, 2024