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NM_000335.5(SCN5A):c.2335del (p.Gln779fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 8, 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:
RCV001258076.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.2335del (p.Gln779fs)]

NM_000335.5(SCN5A):c.2335del (p.Gln779fs)

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.2335del (p.Gln779fs)
HGVS:
  • NC_000003.12:g.38587501del
  • NG_008934.1:g.67172del
  • NM_000335.5:c.2335delMANE SELECT
  • NM_001099404.2:c.2335del
  • NM_001099405.2:c.2335del
  • NM_001160160.2:c.2335del
  • NM_001160161.2:c.2335del
  • NM_001354701.2:c.2335del
  • NM_198056.3:c.2335del
  • NP_000326.2:p.Gln779fs
  • NP_001092874.1:p.Gln779fs
  • NP_001092875.1:p.Gln779fs
  • NP_001153632.1:p.Gln779fs
  • NP_001153633.1:p.Gln779fs
  • NP_001341630.1:p.Gln779fs
  • NP_932173.1:p.Gln779fs
  • LRG_289t1:c.2335del
  • LRG_289:g.67172del
  • NC_000003.11:g.38628992del
  • NM_198056.2:c.2335delC
Protein change:
Q779fs
Links:
dbSNP: rs2061687300
NCBI 1000 Genomes Browser:
rs2061687300
Molecular consequence:
  • NM_000335.5:c.2335del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001099404.2:c.2335del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001099405.2:c.2335del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001160160.2:c.2335del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001160161.2:c.2335del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354701.2:c.2335del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198056.3:c.2335del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Brugada syndrome 1 (BRGDA1)
Synonyms:
Right bundle branch block, ST segment elevation, and sudden death syndrome
Identifiers:
MONDO: MONDO:0011001; MedGen: C4551804; Orphanet: 130; OMIM: 601144
Name:
Long QT syndrome 3 (LQT3)
Identifiers:
MONDO: MONDO:0011377; MedGen: C1859062; Orphanet: 101016; Orphanet: 768; OMIM: 603830

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001434909Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 8, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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

Details of each submission

From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001434909.1

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

Description

The c.2335delC (p.Gln779Argfs*23) variant in the SCN5A gene is predicted to introduce a premature translation termination codon. This variant has never been reported in general population databases. Therefore, this c.2335delC (p.Gln779Argfs*23) variant in the SCN5A gene is classified as likely pathogenic.

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

Last Updated: Nov 5, 2022