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NM_001379200.1(TBX1):c.1513T>A (p.Ter505Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 5, 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:
RCV003317970.1

Allele description [Variation Report for NM_001379200.1(TBX1):c.1513T>A (p.Ter505Lys)]

NM_001379200.1(TBX1):c.1513T>A (p.Ter505Lys)

Gene:
TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_001379200.1(TBX1):c.1513T>A (p.Ter505Lys)
HGVS:
  • NC_000022.11:g.19766865T>A
  • NG_009229.1:g.15163T>A
  • NM_001379200.1:c.1513T>AMANE SELECT
  • NM_005992.1:c.1009+863T>A
  • NM_080646.2:c.1009+863T>A
  • NM_080647.1:c.1486T>A
  • NP_001366129.1:p.Ter505Lys
  • NP_542378.1:p.Ter496Lys
  • LRG_226t1:c.1486T>A
  • LRG_226:g.15163T>A
  • LRG_226p1:p.Ter496Lys
  • NC_000022.10:g.19754388T>A
Molecular consequence:
  • NM_005992.1:c.1009+863T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080646.2:c.1009+863T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379200.1:c.1513T>A - stop lost - [Sequence Ontology: SO:0001578]
  • NM_080647.1:c.1486T>A - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004021270Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 5, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004021270.1

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

Description

Variant summary: TBX1 c.1486T>A (p.X496LysextX100) changes the termination codon and is predicted to lead to an extended protein with additional amino acids added to the normal C-terminus. TBX1 c.1486T>A (p.X496LysextX100) causes a frameshift which results in an extension of the protein. The variant allele was found at a frequency of 4.7e-06 in 210788 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1486T>A in individuals affected with TBX1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jul 29, 2023