NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 15, 2016
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:: RCV000584823.3

Allele description [Variation Report for NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)]

NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)

Genes:

SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)

HGVS:

NC_000002.12:g.165994176C>A
NG_011906.1:g.84464G>T
NM_001165963.4:c.4822G>TMANE SELECT
NM_001165963.4:c.4822G>T
NM_001165964.3:c.4738G>T
NM_001202435.3:c.4822G>T
NM_001353948.2:c.4822G>T
NM_001353949.2:c.4789G>T
NM_001353950.2:c.4789G>T
NM_001353951.2:c.4789G>T
NM_001353952.2:c.4789G>T
NM_001353954.2:c.4786G>T
NM_001353955.2:c.4786G>T
NM_001353957.2:c.4738G>T
NM_001353958.2:c.4738G>T
NM_001353960.2:c.4735G>T
NM_001353961.2:c.2380G>T
NM_006920.6:c.4789G>T
NP_001159435.1:p.Asp1608Tyr
NP_001159436.1:p.Asp1580Tyr
NP_001189364.1:p.Asp1608Tyr
NP_001340877.1:p.Asp1608Tyr
NP_001340878.1:p.Asp1597Tyr
NP_001340879.1:p.Asp1597Tyr
NP_001340880.1:p.Asp1597Tyr
NP_001340881.1:p.Asp1597Tyr
NP_001340883.1:p.Asp1596Tyr
NP_001340884.1:p.Asp1596Tyr
NP_001340886.1:p.Asp1580Tyr
NP_001340887.1:p.Asp1580Tyr
NP_001340889.1:p.Asp1579Tyr
NP_001340890.1:p.Asp794Tyr
NP_008851.3:p.Asp1597Tyr
LRG_8t1:c.4789G>T
LRG_8:g.84464G>T
NC_000002.11:g.166850686C>A
NC_000002.11:g.166850686C>A
NM_001165963.1:c.4822G>T
NM_001202435.1:c.4822G>T
NM_006920.4:c.4789G>T
NR_148667.2:n.5239G>T

Protein change:

D1579Y

Links:

UniProtKB/Swiss-Prot: VAR_064320; dbSNP: rs121917915

NCBI 1000 Genomes Browser:

rs121917915

Molecular consequence:

NM_001165963.4:c.4822G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.4738G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.4822G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.4822G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.4789G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.4789G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.4789G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.4789G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.4786G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.4786G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.4738G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.4738G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.4735G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353961.2:c.2380G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.4789G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.5239G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Name:: Delayed speech and language development
Identifiers:: MedGen: C0454644; Human Phenotype Ontology: HP:0000750

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S41 family peptidase [Myroides albus]
S41 family peptidase [Myroides albus]
gi|2288176423|gnl|PRJNA837367|NWE55 0|gb|UVD80897.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692549	Center for Personalized Medicine, Children's Hospital Los Angeles	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 15, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692549

Center for Personalized Medicine, Children's Hospital Los Angeles

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 15, 2016)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Korean	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000692549.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Korean	not provided	not provided	not provided	clinical testing (GTR000552474.2)	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	validation	(GTR000552474.2)	not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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