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

Clinical significance:Benign (Last evaluated: Dec 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000713154.6

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]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000843733Athena Diagnostics Inccriteria provided, single submitter
Benign
(Dec 27, 2017)
germlineclinical testing

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

SCV001955888Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

SCV001968421Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV000843733.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001955888.1

#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, SCV001968421.1

#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: Nov 27, 2021

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