NM_000335.5(SCN5A):c.4434+5G>A AND Atrial fibrillation

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2024
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:: RCV004772906.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.4434+5G>A]

NM_000335.5(SCN5A):c.4434+5G>A

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.4434+5G>A

HGVS:

NC_000003.12:g.38556436C>T
NG_008934.1:g.98237G>A
NM_000335.5:c.4434+5G>AMANE SELECT
NM_001099404.2:c.4437+5G>A
NM_001099405.2:c.4383+5G>A
NM_001160160.2:c.4434+5G>A
NM_001160161.2:c.4275+5G>A
NM_001354701.2:c.4380+5G>A
NM_198056.3:c.4437+5G>A
LRG_289t1:c.4437+5G>A
LRG_289:g.98237G>A
NC_000003.11:g.38597927C>T
NM_001099404.1:c.4437+5G>A
NM_198056.2:c.4437+5G>A

Links:

dbSNP: rs1057520531

NCBI 1000 Genomes Browser:

rs1057520531

Molecular consequence:

NM_000335.5:c.4434+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001099404.2:c.4437+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001099405.2:c.4383+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001160160.2:c.4434+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001160161.2:c.4275+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354701.2:c.4380+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_198056.3:c.4437+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]

Condition(s)

Name:: Atrial fibrillation
Identifiers:: EFO: EFO_0000275; MONDO: MONDO:0004981; MedGen: C0004238; Human Phenotype Ontology: HP:0005110

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005200566	Lildballe Lab, Aarhus University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2024)	germline	research	PubMed (3) [See all records that cite these PMIDs] 25741911, 25741868, 39481677

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005200566

Lildballe Lab, Aarhus University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2024)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

The role of metabolomics in osteoarthritis for early diagnosis, monitoring prognosis and treatment.

Atik OŞ.

Eklem Hastalik Cerrahisi. 2015;26(1):1. doi: 10.5606/ehc.2015.01. No abstract available.

PubMed [citation]

PMID:: 25741911

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

See all PubMed Citations (3)

Details of each submission

From Lildballe Lab, Aarhus University Hospital, SCV005200566.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (3)

Description

PS4(s) PM2(s) PP3(sup) PP5(noinf)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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