U.S. flag

An official website of the United States government

NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 12, 2018
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:
RCV000850506.8

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)]

NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)

Gene:
TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
Other names:
p.E153K:GAG>AAG
HGVS:
  • NC_000016.10:g.2496605G>A
  • NG_028170.1:g.26460G>A
  • NM_001199107.2:c.457G>AMANE SELECT
  • NM_020705.3:c.457G>A
  • NP_001186036.1:p.Glu153Lys
  • NP_065756.1:p.Glu153Lys
  • NC_000016.9:g.2546606G>A
  • NM_001199107.1:c.457G>A
  • NM_020705.2:c.457G>A
Protein change:
E153K
Links:
dbSNP: rs376712059
NCBI 1000 Genomes Browser:
rs376712059
Molecular consequence:
  • NM_001199107.2:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020705.3:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
DOORS syndrome (DOORS)
Synonyms:
Deafness onychodystrophy osteodystrophy and mental retardation syndrome; DRC SYNDROME; BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009079; MedGen: C0795934; Orphanet: 3231; Orphanet: 79500; OMIM: 220500
Name:
Familial infantile myoclonic epilepsy (FIME)
Synonyms:
Epilepsy, Myoclonic, Infantile
Identifiers:
MONDO: MONDO:0011506; MedGen: C0917800; Orphanet: 352582; OMIM: 605021
Name:
Autosomal recessive nonsyndromic hearing loss 86
Synonyms:
Deafness, autosomal recessive 86
Identifiers:
MONDO: MONDO:0013826; MedGen: C2829265; Orphanet: 90636; OMIM: 614617
Name:
Developmental and epileptic encephalopathy, 16 (DEE16)
Synonyms:
Early infantile epileptic encephalopathy 16
Identifiers:
MONDO: MONDO:0014133; MedGen: C3809173; Orphanet: 293181; Orphanet: 352596; OMIM: 615338
Name:
Autosomal dominant nonsyndromic hearing loss 65
Synonyms:
Deafness, autosomal dominant 65
Identifiers:
MONDO: MONDO:0014470; MedGen: C3892048; Orphanet: 90635; OMIM: 616044

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992709Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 12, 2018) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

Poulat AL, Ville D, de Bellescize J, André-Obadia N, Cacciagli P, Milh M, Villard L, Lesca G.

Epilepsy Res. 2015 Mar;111:72-7. doi: 10.1016/j.eplepsyres.2015.01.008. Epub 2015 Jan 25.

PubMed [citation]
PMID:
25769375

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

Ngoh A, Bras J, Guerreiro R, McTague A, Ng J, Meyer E, Chong WK, Boyd S, MacLellan L, Kirkpatrick M, Kurian MA.

Tremor Other Hyperkinet Mov (N Y). 2017;7:452. doi: 10.7916/D8Q52VBV.

PubMed [citation]
PMID:
28428906
PMCID:
PMC5395678
See all PubMed Citations (4)

Details of each submission

From Baylor Genetics, SCV000992709.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 29, 2024