NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 10, 2017
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:: RCV000433130.3

Allele description [Variation Report for NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)]

NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)

HGVS:

NC_000002.12:g.166058618G>A
NG_011906.1:g.20022C>T
NM_001165963.4:c.335C>TMANE SELECT
NM_001165964.3:c.335C>T
NM_001202435.3:c.335C>T
NM_001353948.2:c.335C>T
NM_001353949.2:c.335C>T
NM_001353950.2:c.335C>T
NM_001353951.2:c.335C>T
NM_001353952.2:c.335C>T
NM_001353954.2:c.335C>T
NM_001353955.2:c.335C>T
NM_001353957.2:c.335C>T
NM_001353958.2:c.335C>T
NM_001353960.2:c.335C>T
NM_001353961.2:c.-2091C>T
NM_006920.6:c.335C>T
NP_001159435.1:p.Thr112Ile
NP_001159436.1:p.Thr112Ile
NP_001189364.1:p.Thr112Ile
NP_001340877.1:p.Thr112Ile
NP_001340878.1:p.Thr112Ile
NP_001340879.1:p.Thr112Ile
NP_001340880.1:p.Thr112Ile
NP_001340881.1:p.Thr112Ile
NP_001340883.1:p.Thr112Ile
NP_001340884.1:p.Thr112Ile
NP_001340886.1:p.Thr112Ile
NP_001340887.1:p.Thr112Ile
NP_001340889.1:p.Thr112Ile
NP_008851.3:p.Thr112Ile
LRG_8t1:c.335C>T
LRG_8:g.20022C>T
NC_000002.11:g.166915128G>A
NM_006920.4:c.335C>T
NR_148667.2:n.721C>T
P35498:p.Thr112Ile

Protein change:

T112I

Links:

UniProtKB: P35498#VAR_029663; UniProtKB/Swiss-Prot: VAR_029663; dbSNP: rs121918745

NCBI 1000 Genomes Browser:

rs121918745

Molecular consequence:

NM_001353961.2:c.-2091C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001165963.4:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.721C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000511252	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 10, 2017)	de novo	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

SCV000511252

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 10, 2017)

de novo

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
not provided	de novo	not provided	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 Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000511252.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	not provided	not provided	not provided	not provided		not provided	0.000116	not provided	not provided

Last Updated: Feb 20, 2024

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