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NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 2, 2018
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:
RCV002453637.2

Allele description [Variation Report for NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His)]

NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His)

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.3400A>C (p.Asn1134His)
HGVS:
  • NC_000023.11:g.100296324T>G
  • NG_021319.1:g.118950A>C
  • NM_001105243.2:c.3259A>C
  • NM_001184880.2:c.3400A>CMANE SELECT
  • NM_020766.3:c.3256A>C
  • NP_001098713.1:p.Asn1087His
  • NP_001171809.1:p.Asn1134His
  • NP_065817.2:p.Asn1086His
  • LRG_843t1:c.3400A>C
  • LRG_843:g.118950A>C
  • LRG_843p1:p.Asn1134His
  • NC_000023.10:g.99551322T>G
  • NM_001184880.1:c.3400A>C
  • Q8TAB3:p.Asn1134His
Protein change:
N1086H
Links:
UniProtKB: Q8TAB3#VAR_067489; dbSNP: rs141816797
NCBI 1000 Genomes Browser:
rs141816797
Molecular consequence:
  • NM_001105243.2:c.3259A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184880.2:c.3400A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020766.3:c.3256A>C - 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
SCV002614959Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jan 2, 2018) 		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, SCV002614959.2

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 13, 2024