NM_001366285.2(TBXT):c.571C>T (p.Gln191Ter) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 26, 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:
RCV000578512.2

Allele description [Variation Report for NM_001366285.2(TBXT):c.571C>T (p.Gln191Ter)]

NM_001366285.2(TBXT):c.571C>T (p.Gln191Ter)

Gene:
TBXT:T-box transcription factor T [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q27
Genomic location:
Preferred name:
NM_001366285.2(TBXT):c.571C>T (p.Gln191Ter)
HGVS:
  • NC_000006.12:g.166165741G>A
  • NG_012135.1:g.7903C>T
  • NM_001270484.2:c.571C>T
  • NM_001366285.2:c.571C>TMANE SELECT
  • NM_001366286.2:c.571C>T
  • NM_003181.4:c.571C>T
  • NP_001257413.1:p.Gln191Ter
  • NP_001353214.1:p.Gln191Ter
  • NP_001353215.1:p.Gln191Ter
  • NP_003172.1:p.Gln191Ter
  • NP_003172.1:p.Gln191Ter
  • NC_000006.11:g.166579229G>A
  • NM_003181.3:c.571C>T
Protein change:
Q191*
Links:
dbSNP: rs761937886
NCBI 1000 Genomes Browser:
rs761937886
Molecular consequence:
  • NM_001270484.2:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001366285.2:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001366286.2:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003181.4:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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
SCV000680913GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 26, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000680913.2

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

Description

The Q191X variant in the T gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q191X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q191X as a variant of uncertain significance.

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

Last Updated: Apr 23, 2022