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NM_006849.4(PDIA2):c.383G>A (p.Arg128His) AND Bicuspid aortic valve

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 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:
RCV001263409.1

Allele description [Variation Report for NM_006849.4(PDIA2):c.383G>A (p.Arg128His)]

NM_006849.4(PDIA2):c.383G>A (p.Arg128His)

Gene:
PDIA2:protein disulfide isomerase family A member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_006849.4(PDIA2):c.383G>A (p.Arg128His)
HGVS:
  • NC_000016.10:g.284570G>A
  • NM_006849.4:c.383G>AMANE SELECT
  • NP_006840.2:p.Arg128His
  • NC_000016.9:g.334570G>A
  • NM_006849.2:c.383G>A
Protein change:
R128H
Links:
dbSNP: rs373590123
NCBI 1000 Genomes Browser:
rs373590123
Molecular consequence:
  • NM_006849.4:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Bicuspid aortic valve
Identifiers:
MedGen: C0149630; Human Phenotype Ontology: HP:0001647

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441453New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 31, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001441453.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2023