NM_001037.4(SCN1B):c.457G>A (p.Asp153Asn) AND Death in early adulthood

Clinical significance:Pathogenic (Last evaluated: Mar 27, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000234993.1

Allele description

NM_001037.4(SCN1B):c.457G>A (p.Asp153Asn)

Gene:
SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.11
Genomic location:
Preferred name:
NM_001037.4(SCN1B):c.457G>A (p.Asp153Asn)
Other names:
p.D153N:GAC>AAC
HGVS:
  • NC_000019.10:g.35039125G>A
  • NG_013359.1:g.13438G>A
  • NM_001037.4:c.457G>A
  • NM_199037.4:c.*172+4855G>A
  • NP_001028.1:p.Asp153Asn
  • NC_000019.9:g.35530029G>A
  • NM_199037.2:c.*5027G>A
  • Q07699:p.Asp153Asn
Protein change:
D153N; ASP153ASN
Links:
UniProtKB: Q07699#VAR_070220; OMIM: 600235.0007; dbSNP: rs72550247
NCBI 1000 Genomes Browser:
rs72550247
Allele Frequency:
0.00007(A), GO-ESP
Molecular consequence:
  • NM_001037.4:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Death in early adulthood
Identifiers:
MedGen: C4022012; Human Phenotype Ontology: HP:0100613

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000263120Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences - HCIFS-Postmortem genetic screening projectno assertion criteria providedPathogenic
(Mar 27, 2015)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Causasiansunknownyes1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.

Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM.

Circ Arrhythm Electrophysiol. 2009 Jun;2(3):268-75. doi: 10.1161/CIRCEP.108.779181. Epub 2009 Mar 6.

PubMed [citation]
PMID:
19808477
PMCID:
PMC2727725

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project., Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, et al.

Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19.

PubMed [citation]
PMID:
24055113
PMCID:
PMC3791261
See all PubMed Citations (3)

Details of each submission

From Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences - HCIFS-Postmortem genetic screening project, SCV000263120.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedclinical testing PubMed (3)

Description

NM_001037.4:c.457G>A is pathogenic for Death in early adulthood in combination with NM_198056.2:c.1844G>A

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1Blooddiscovery1not providednot provided See 1

Co-occurrences

#ZygosityAllelesNumber of Observations
1NM_198056.2:c.1844G>A

Last Updated: Sep 27, 2017