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NM_000335.5(SCN5A):c.3509-1G>C AND Cardiovascular phenotype

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 21, 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:
RCV002456294.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.3509-1G>C]

NM_000335.5(SCN5A):c.3509-1G>C

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.3509-1G>C
HGVS:
  • NC_000003.12:g.38575452C>G
  • NG_008934.1:g.79221G>C
  • NM_000335.5:c.3509-1G>CMANE SELECT
  • NM_001099404.2:c.3512-1G>C
  • NM_001099405.2:c.3512-1G>C
  • NM_001160160.2:c.3509-1G>C
  • NM_001160161.2:c.3350-1G>C
  • NM_001354701.2:c.3509-1G>C
  • NM_198056.3:c.3512-1G>C
  • LRG_289t1:c.3512-1G>C
  • LRG_289:g.79221G>C
  • NC_000003.11:g.38616943C>G
  • NM_198056.2:c.3512-1G>C
Links:
dbSNP: rs1553698563
NCBI 1000 Genomes Browser:
rs1553698563
Molecular consequence:
  • NM_000335.5:c.3509-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001099404.2:c.3512-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001099405.2:c.3512-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001160160.2:c.3509-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001160161.2:c.3350-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354701.2:c.3509-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_198056.3:c.3512-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002616370Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(May 21, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002616370.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.3512-1G>C intronic variant results from a G to C substitution one nucleotide upstream from coding exon 19 of the SCN5A gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024