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NM_017864.4(INTS8):c.484A>C (p.Lys162Gln) 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:
RCV000190147.1

Allele description [Variation Report for NM_017864.4(INTS8):c.484A>C (p.Lys162Gln)]

NM_017864.4(INTS8):c.484A>C (p.Lys162Gln)

Gene:
INTS8:integrator complex subunit 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.1
Genomic location:
Preferred name:
NM_017864.4(INTS8):c.484A>C (p.Lys162Gln)
HGVS:
  • NC_000008.11:g.94827759A>C
  • NG_047163.1:g.19449A>C
  • NM_017864.4:c.484A>CMANE SELECT
  • NP_060334.2:p.Lys162Gln
  • NC_000008.10:g.95839987A>C
  • NM_017864.2:c.484A>C
  • NR_073444.2:n.629A>C
  • NR_073445.2:n.629A>C
Protein change:
K162Q
Links:
dbSNP: rs796052157
NCBI 1000 Genomes Browser:
rs796052157
Molecular consequence:
  • NM_017864.4:c.484A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073444.2:n.629A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073445.2:n.629A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221997Medical 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]

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, SCV000221997.1

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

Last Updated: Apr 23, 2022