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NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val) AND Cognitive impairment with or without cerebellar ataxia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 16, 2021
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:
RCV002245671.2

Allele description [Variation Report for NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val)]

NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val)

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.3152C>T (p.Ala1051Val)
HGVS:
  • NC_000012.12:g.51769115C>T
  • NG_021180.3:g.184158C>T
  • NM_001177984.3:c.3152C>T
  • NM_001330260.2:c.3152C>TMANE SELECT
  • NM_001369788.1:c.3152C>T
  • NM_014191.4:c.3152C>T
  • NP_001171455.1:p.Ala1051Val
  • NP_001317189.1:p.Ala1051Val
  • NP_001356717.1:p.Ala1051Val
  • NP_055006.1:p.Ala1051Val
  • LRG_1389t1:c.3152C>T
  • LRG_1389t2:c.3152C>T
  • LRG_1389:g.184158C>T
  • LRG_1389p1:p.Ala1051Val
  • LRG_1389p2:p.Ala1051Val
  • NC_000012.11:g.52162899C>T
  • NM_014191.3:c.3152C>T
Protein change:
A1051V
Links:
dbSNP: rs376547086
NCBI 1000 Genomes Browser:
rs376547086
Molecular consequence:
  • NM_001177984.3:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cognitive impairment with or without cerebellar ataxia (CIAT)
Identifiers:
MONDO: MONDO:0013680; MedGen: C3280415; OMIM: 614306

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002512536Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 16, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512536.1

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

Description

ACMG classification criteria: PM2 moderate, PP2 supporting, BP4 supporting

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

Last Updated: Sep 29, 2024