U.S. flag

An official website of the United States government

NC_000017.10:g.(?_59543160)_(59545038_?)del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 12, 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:
RCV004581438.2

Allele description [Variation Report for NC_000017.10:g.(?_59543160)_(59545038_?)del]

NC_000017.10:g.(?_59543160)_(59545038_?)del

Gene:
TBX4:T-box transcription factor 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q23.2
Genomic location:
Chr17: 59543160 - 59545038 (on Assembly GRCh37)
Preferred name:
NC_000017.10:g.(?_59543160)_(59545038_?)del
HGVS:
NC_000017.10:g.(?_59543160)_(59545038_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV005066766Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 12, 2023) 		unknownclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, et al.

Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10.

PubMed [citation]
PMID:
30639323
PMCID:
PMC6369446

Mutations in the human TBX4 gene cause small patella syndrome.

Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H.

Am J Hum Genet. 2004 Jun;74(6):1239-48. Epub 2004 Apr 21.

PubMed [citation]
PMID:
15106123
PMCID:
PMC1182087
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005066766.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with TBX4-related conditions (PMID: 30639323). This variant is a gross deletion of the genomic region encompassing exon(s) 3-4 of the TBX4 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in TBX4 are known to be pathogenic (PMID: 15106123, 31151956, 31761294, 31965066, 32079640).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024