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NM_002864.2(PZP):c.[1504G>A];[3325G>A] AND Long QT syndrome

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000190132.3

Allele description

NM_002864.3(PZP):c.1504G>A (p.Val502Ile)

Genes:
PZP:PZP alpha-2-macroglobulin like [Gene - OMIM - HGNC]
KLRG1:killer cell lectin like receptor G1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_002864.3(PZP):c.1504G>A (p.Val502Ile)
HGVS:
  • NC_000012.12:g.9192235C>T
  • NG_052998.1:g.21136G>A
  • NM_002864.3:c.1504G>AMANE SELECT
  • NP_002855.2:p.Val502Ile
  • NC_000012.11:g.9344831C>T
  • NM_002864.2:c.1504G>A
Protein change:
V502I
Links:
dbSNP: rs796052146
NCBI 1000 Genomes Browser:
rs796052146
Molecular consequence:
  • NM_002864.3:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]

NM_002864.3(PZP):c.3325G>A (p.Ala1109Thr)

Genes:
PZP:PZP alpha-2-macroglobulin like [Gene - OMIM - HGNC]
KLRG1:killer cell lectin like receptor G1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_002864.3(PZP):c.3325G>A (p.Ala1109Thr)
HGVS:
  • NC_000012.12:g.9157811C>T
  • NG_052998.1:g.55560G>A
  • NM_002864.3:c.3325G>AMANE SELECT
  • NP_002855.2:p.Ala1109Thr
  • NC_000012.11:g.9310407C>T
  • NM_002864.2:c.3325G>A
Protein change:
A1109T
Links:
dbSNP: rs766749252
NCBI 1000 Genomes Browser:
rs766749252
Molecular consequence:
  • NM_002864.3:c.3325G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000221982Medical Research Institute, Tokyo Medical and Dental University

See additional submitters

no assertion criteria provided
Likely benigngermlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes.

Shigemizu D, Aiba T, Nakagawa H, Ozaki K, Miya F, Satake W, Toda T, Miyamoto Y, Fujimoto A, Suzuki Y, Kubo M, Tsunoda T, Shimizu W, Tanaka T.

PLoS One. 2015;10(7):e0130329. doi: 10.1371/journal.pone.0130329.

PubMed [citation]
PMID:
26132555
PMCID:
PMC4488844

Details of each submission

From Medical Research Institute, Tokyo Medical and Dental University, SCV000221982.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscoverynot providednot providednot providednot provided

Last Updated: Jan 26, 2024