U.S. flag

An official website of the United States government

NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 5, 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:
RCV001266838.6

Allele description [Variation Report for NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)]

NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)

Genes:
LOC129935026:ATAC-STARR-seq lymphoblastoid silent region 12060 [Gene]
TBR1:T-box brain transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q24.2
Genomic location:
Preferred name:
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
Other names:
NM_006593.4(TBR1):c.1588_1594dup; p.Thr532fs
HGVS:
  • NC_000002.12:g.161423759GGCTGCA[3]
  • NG_046904.1:g.12651GGCTGCA[3]
  • NM_006593.4:c.1588_1594dupMANE SELECT
  • NP_006584.1:p.Thr532fs
  • NC_000002.11:g.162280270GGCTGCA[3]
  • NM_006593.2:c.1588_1594dupGGCTGCA
  • NM_006593.3:c.1588_1594dupGGCTGCA
  • NM_006593.4:c.1588_1589insGCTGCAGMANE SELECT
Protein change:
T532fs
Links:
OMIM: 604616.0007; dbSNP: rs869312704
NCBI 1000 Genomes Browser:
rs869312704
Molecular consequence:
  • NM_006593.4:c.1588_1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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
SCV001445018Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Likely pathogenic
(Jun 5, 2018) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Genome sequencing identifies major causes of severe intellectual disability.

Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA.

Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4.

PubMed [citation]
PMID:
24896178

Genomic diagnosis for children with intellectual disability and/or developmental delay.

Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM.

Genome Med. 2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1.

PubMed [citation]
PMID:
28554332
PMCID:
PMC5448144
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001445018.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: May 12, 2024