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NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 14, 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:
RCV000254455.13

Allele description [Variation Report for NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)]

NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)

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_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
Other names:
p.G10S:GGC>AGC
HGVS:
  • NC_000019.10:g.35030848G>A
  • NG_013359.1:g.5161G>A
  • NM_001037.5:c.28G>AMANE SELECT
  • NM_199037.5:c.28G>A
  • NP_001028.1:p.Gly10Ser
  • NP_950238.1:p.Gly10Ser
  • LRG_420t1:c.28G>A
  • LRG_420:g.5161G>A
  • LRG_420p1:p.Gly10Ser
  • NC_000019.9:g.35521752G>A
  • NM_001037.4:c.28G>A
  • NM_199037.3:c.28G>A
Protein change:
G10S
Links:
dbSNP: rs72552027
NCBI 1000 Genomes Browser:
rs72552027
Molecular consequence:
  • NM_001037.5:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199037.5:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000318519Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 14, 2018) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.

Tan BH, Pundi KN, Van Norstrand DW, Valdivia CR, Tester DJ, Medeiros-Domingo A, Makielski JC, Ackerman MJ.

Heart Rhythm. 2010 Jun;7(6):771-8. doi: 10.1016/j.hrthm.2010.01.032. Epub 2010 Feb 1.

PubMed [citation]
PMID:
20226894
PMCID:
PMC2909680

A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome.

Riuró H, Campuzano O, Arbelo E, Iglesias A, Batlle M, Pérez-Villa F, Brugada J, Pérez GJ, Scornik FS, Brugada R.

Heart Rhythm. 2014 Jul;11(7):1202-9. doi: 10.1016/j.hrthm.2014.03.044. Epub 2014 Mar 21.

PubMed [citation]
PMID:
24662403

Details of each submission

From Ambry Genetics, SCV000318519.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely 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: Apr 13, 2025