NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) AND not specified

Clinical significance:Benign (Last evaluated: Nov 27, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000118282.7

Allele description [Variation Report for NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)]

NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)

Gene:
SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)
Other names:
p.T1374T:ACT>ACA
HGVS:
  • NC_000012.12:g.51786721T>A
  • NG_021180.3:g.201764T>A
  • NM_001177984.3:c.3999T>A
  • NM_001330260.2:c.4122T>AMANE SELECT
  • NM_001369788.1:c.3999T>A
  • NM_014191.4:c.4122T>A
  • NM_014191.4:c.4122T>A
  • NP_001171455.1:p.Thr1333=
  • NP_001317189.1:p.Thr1374=
  • NP_001356717.1:p.Thr1333=
  • NP_055006.1:p.Thr1374=
  • LRG_1389t1:c.4122T>A
  • LRG_1389t2:c.4122T>A
  • LRG_1389:g.201764T>A
  • LRG_1389p1:p.Thr1374=
  • LRG_1389p2:p.Thr1374=
  • NC_000012.11:g.52180505T>A
  • NM_014191.2:c.4122T>A
  • NM_014191.3:c.4122T>A
Links:
dbSNP: rs115623439
NCBI 1000 Genomes Browser:
rs115623439
Molecular consequence:
  • NM_001177984.3:c.3999T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330260.2:c.4122T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369788.1:c.3999T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014191.4:c.4122T>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000152654Genetic Services Laboratory,University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

SCV000171588GeneDxcriteria provided, single submitter
Benign
(Nov 27, 2013)
germlineclinical testing

Citation Link,

SCV001974777Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000152654.2

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

From GeneDx, SCV000171588.12

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#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, SCV001974777.1

#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: Oct 30, 2021

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