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NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Mar 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000857921.23

Allele description [Variation Report for NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)]

NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)

Gene:
SCN3A:sodium voltage-gated channel alpha subunit 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)
Other names:
NM_006922.4(SCN3A):c.3250G>A
HGVS:
  • NC_000002.12:g.165127774C>T
  • NG_042289.1:g.81315G>A
  • NM_001081676.2:c.3103G>A
  • NM_001081677.2:c.3103G>A
  • NM_006922.4:c.3250G>AMANE SELECT
  • NP_001075145.1:p.Val1035Ile
  • NP_001075146.1:p.Val1035Ile
  • NP_008853.3:p.Val1084Ile
  • NC_000002.11:g.165984284C>T
  • NM_006922.3:c.3250G>A
  • Q9NY46:p.Val1084Ile
Protein change:
V1035I
Links:
UniProtKB: Q9NY46#VAR_076435; dbSNP: rs140990288
NCBI 1000 Genomes Browser:
rs140990288
Molecular consequence:
  • NM_001081676.2:c.3103G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081677.2:c.3103G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006922.4:c.3250G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
16

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000289602Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Feb 1, 2024)
germlineclinical testing

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

SCV001145469Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Benign
(Feb 4, 2019)
germlineclinical testing

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

SCV002544091CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(Mar 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes16not providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

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 Invitae, SCV000289602.9

#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 Athena Diagnostics, SCV001145469.1

#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 CeGaT Center for Human Genetics Tuebingen, SCV002544091.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided16not providednot providedclinical testingnot provided

Description

SCN3A: BP4, BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided16not providednot providednot provided

Last Updated: Jul 15, 2024