NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) AND Focal cortical dysplasia type II

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)]

NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)

TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
Other names:
  • NC_000009.12:g.132896343G>A
  • NG_012386.1:g.53291C>T
  • NM_000368.5:c.3387C>TMANE SELECT
  • NM_001162426.2:c.3384C>T
  • NM_001162427.2:c.3234C>T
  • NM_001362177.2:c.3024C>T
  • NP_000359.1:p.Ala1129=
  • NP_000359.1:p.Ala1129=
  • NP_001155898.1:p.Ala1128=
  • NP_001155899.1:p.Ala1078=
  • NP_001349106.1:p.Ala1008=
  • LRG_486t1:c.3387C>T
  • LRG_486:g.53291C>T
  • LRG_486p1:p.Ala1129=
  • NC_000009.11:g.135771730G>A
  • NM_000368.4:c.3387C>T
  • p.(=)
Tuberous sclerosis database (TSC1): TSC1_00421; dbSNP: rs200200869
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000368.5:c.3387C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001162426.2:c.3384C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001162427.2:c.3234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001362177.2:c.3024C>T - synonymous variant - [Sequence Ontology: SO:0001819]


Focal cortical dysplasia type II (FCORD2)
Focal cortical dysplasia of Taylor; Cortical dysplasia of Taylor; Focal cortical dysplasia type 2
MONDO: MONDO:0011818; MedGen: C1846385; OMIM: 607341; Human Phenotype Ontology: HP:0032051

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000478174Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000478174.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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