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NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) AND Isolated focal cortical dysplasia type II

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 15, 2023
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:
RCV003462294.1

Allele description [Variation Report for NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)]

NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
Other names:
p.E1049K:GAG>AAG
HGVS:
  • NC_000016.10:g.2079289G>A
  • NG_005895.1:g.34984G>A
  • NM_000548.5:c.3145G>AMANE SELECT
  • NM_001077183.3:c.3013G>A
  • NM_001114382.3:c.3145G>A
  • NM_001318827.2:c.2905G>A
  • NM_001318829.2:c.2869G>A
  • NM_001318831.2:c.2413G>A
  • NM_001318832.2:c.3046G>A
  • NM_001363528.2:c.3016G>A
  • NM_001370404.1:c.3013G>A
  • NM_001370405.1:c.3016G>A
  • NM_021055.3:c.3016G>A
  • NP_000539.2:p.Glu1049Lys
  • NP_001070651.1:p.Glu1005Lys
  • NP_001107854.1:p.Glu1049Lys
  • NP_001305756.1:p.Glu969Lys
  • NP_001305758.1:p.Glu957Lys
  • NP_001305760.1:p.Glu805Lys
  • NP_001305761.1:p.Glu1016Lys
  • NP_001350457.1:p.Glu1006Lys
  • NP_001357333.1:p.Glu1005Lys
  • NP_001357334.1:p.Glu1006Lys
  • NP_066399.2:p.Glu1006Lys
  • LRG_487t1:c.3145G>A
  • LRG_487:g.34984G>A
  • NC_000016.9:g.2129290G>A
  • NM_000548.3:c.3145G>A
  • NM_000548.4:c.3145G>A
  • NM_001077183.1:c.3013G>A
Protein change:
E1005K
Links:
dbSNP: rs796053492
NCBI 1000 Genomes Browser:
rs796053492
Molecular consequence:
  • NM_000548.5:c.3145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077183.3:c.3013G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114382.3:c.3145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318827.2:c.2905G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318829.2:c.2869G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318831.2:c.2413G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318832.2:c.3046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363528.2:c.3016G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370404.1:c.3013G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370405.1:c.3016G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021055.3:c.3016G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Isolated focal cortical dysplasia type II (FCORD2)
Synonyms:
Focal cortical dysplasia of Taylor; Cortical dysplasia of Taylor; Focal cortical dysplasia type 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011818; MedGen: C1846385; OMIM: 607341; Human Phenotype Ontology: HP:0032051

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004206868Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 15, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Baylor Genetics, SCV004206868.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024