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NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 3, 2021
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:
RCV002354320.9

Allele description [Variation Report for NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=)]

NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=)

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.3807C>T (p.Ala1269=)
Other names:
p.A1270A:GCC>GCT
HGVS:
  • NC_000003.12:g.38566439G>A
  • NG_008934.1:g.88234C>T
  • NM_000335.5:c.3807C>TMANE SELECT
  • NM_001099404.2:c.3810C>T
  • NM_001099405.2:c.3810C>T
  • NM_001160160.2:c.3807C>T
  • NM_001160161.2:c.3648C>T
  • NM_001354701.2:c.3807C>T
  • NM_198056.3:c.3810C>T
  • NP_000326.2:p.Ala1269=
  • NP_001092874.1:p.Ala1270=
  • NP_001092875.1:p.Ala1270=
  • NP_001153632.1:p.Ala1269=
  • NP_001153633.1:p.Ala1216=
  • NP_001341630.1:p.Ala1269=
  • NP_932173.1:p.Ala1270=
  • NP_932173.1:p.Ala1270=
  • LRG_289t1:c.3810C>T
  • LRG_289:g.88234C>T
  • LRG_289p1:p.Ala1270=
  • NC_000003.11:g.38607930G>A
  • NM_198056.2:c.3810C>T
Links:
dbSNP: rs367927086
NCBI 1000 Genomes Browser:
rs367927086
Molecular consequence:
  • NM_000335.5:c.3807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001099404.2:c.3810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001099405.2:c.3810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001160160.2:c.3807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001160161.2:c.3648C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354701.2:c.3807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198056.3:c.3810C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002622872Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 3, 2021) 		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, SCV002622872.2

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

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: Oct 8, 2024