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NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Mar 19, 2012
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:
RCV000041597.16

Allele description [Variation Report for NM_000335.5(SCN5A):c.1302C>T (p.Phe434=)]

NM_000335.5(SCN5A):c.1302C>T (p.Phe434=)

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.1302C>T (p.Phe434=)
HGVS:
  • NC_000003.12:g.38605987G>A
  • NG_008934.1:g.48686C>T
  • NM_000335.5:c.1302C>TMANE SELECT
  • NM_001099404.2:c.1302C>T
  • NM_001099405.2:c.1302C>T
  • NM_001160160.2:c.1302C>T
  • NM_001160161.2:c.1302C>T
  • NM_001354701.2:c.1302C>T
  • NM_198056.3:c.1302C>T
  • NP_000326.2:p.Phe434=
  • NP_001092874.1:p.Phe434=
  • NP_001092875.1:p.Phe434=
  • NP_001153632.1:p.Phe434=
  • NP_001153633.1:p.Phe434=
  • NP_001341630.1:p.Phe434=
  • NP_932173.1:p.Phe434=
  • NP_932173.1:p.Phe434=
  • LRG_289t1:c.1302C>T
  • LRG_289:g.48686C>T
  • LRG_289p1:p.Phe434=
  • NC_000003.11:g.38647478G>A
  • NM_198056.2:c.1302C>T
  • c.1302C>T
  • p.Phe434Phe
Links:
dbSNP: rs41313699
NCBI 1000 Genomes Browser:
rs41313699
Molecular consequence:
  • NM_000335.5:c.1302C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001099404.2:c.1302C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001099405.2:c.1302C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001160160.2:c.1302C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001160161.2:c.1302C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354701.2:c.1302C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198056.3:c.1302C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
19

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065293Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Mar 19, 2012)
germlineclinical testing

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

SCV001924317Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

SCV001974137Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1919not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065293.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided19not providednot providedclinical testing PubMed (1)

Description

p.Phe434Phe in Exon 10 of SCN5A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence and has been identified in 4.0% (136/3440) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs41313699).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided19not provided19not provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001924317.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974137.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024