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NM_000335.5(SCN5A):c.3997A>G (p.Ile1333Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 7, 2016
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:
RCV004017378.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.3997A>G (p.Ile1333Val)]

NM_000335.5(SCN5A):c.3997A>G (p.Ile1333Val)

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.3997A>G (p.Ile1333Val)
Other names:
p.I1334V:ATC>GTC
HGVS:
  • NC_000003.12:g.38560392T>C
  • NG_008934.1:g.94281A>G
  • NM_000335.5:c.3997A>GMANE SELECT
  • NM_001099404.2:c.4000A>G
  • NM_001099405.2:c.4000A>G
  • NM_001160160.2:c.3997A>G
  • NM_001160161.2:c.3838A>G
  • NM_001354701.2:c.3997A>G
  • NM_198056.3:c.4000A>G
  • NP_000326.2:p.Ile1333Val
  • NP_001092874.1:p.Ile1334Val
  • NP_001092875.1:p.Ile1334Val
  • NP_001153632.1:p.Ile1333Val
  • NP_001153633.1:p.Ile1280Val
  • NP_001341630.1:p.Ile1333Val
  • NP_932173.1:p.Ile1334Val
  • NP_932173.1:p.Ile1334Val
  • LRG_289t1:c.4000A>G
  • LRG_289:g.94281A>G
  • LRG_289p1:p.Ile1334Val
  • NC_000003.11:g.38601883T>C
  • NM_198056.2:c.4000A>G
  • Q14524:p.Ile1334Val
Protein change:
I1280V
Links:
UniProtKB: Q14524#VAR_074736; dbSNP: rs199473226
NCBI 1000 Genomes Browser:
rs199473226
Molecular consequence:
  • NM_000335.5:c.3997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.3997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.3838A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.3997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004849279Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 7, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004849279.1

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

Description

The c.4000A>G (p.I1334V) alteration is located in exon 23 (coding exon 22) of the SCN5A gene. This alteration results from a A to G substitution at nucleotide position 4000, causing the isoleucine (I) at amino acid position 1334 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024