NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jan 16, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000127997.4

Allele description [Variation Report for NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)]

NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)

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.3822C>T (p.Val1274=)
Other names:
p.V1274V:GTC>GTT
HGVS:
  • NC_000012.12:g.51780651C>T
  • NG_021180.3:g.195694C>T
  • NM_001177984.3:c.3820-5891C>T
  • NM_001330260.2:c.3822C>TMANE SELECT
  • NM_001369788.1:c.3820-5891C>T
  • NM_014191.4:c.3822C>T
  • NM_014191.4:c.3822C>T
  • NP_001317189.1:p.Val1274=
  • NP_055006.1:p.Val1274=
  • LRG_1389t1:c.3822C>T
  • LRG_1389t2:c.3822C>T
  • LRG_1389:g.195694C>T
  • LRG_1389p1:p.Val1274=
  • LRG_1389p2:p.Val1274=
  • NC_000012.11:g.52174435C>T
  • NM_014191.2:c.3822C>T
  • NM_014191.3:c.3822C>T
Links:
dbSNP: rs187327463
NCBI 1000 Genomes Browser:
rs187327463
Molecular consequence:
  • NM_001177984.3:c.3820-5891C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369788.1:c.3820-5891C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330260.2:c.3822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014191.4:c.3822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV000171587GeneDxcriteria provided, single submitter
Benign
(Feb 10, 2014)
germlineclinical testing

Citation Link,

SCV000858975EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Jan 16, 2018)
germlineclinical testing

Citation Link,

SCV001742116Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000171587.12

#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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000858975.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742116.3

#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: Nov 20, 2021

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