X-80022027-TACACACACACACACACACACAC-TACACACACACACACACACACACACACACACAC

Variant names:

• chrX-80022027-T-TACACACACAC
• rs200577659
• NM_001109878.2:c.-2-209_-2-200dupCACACACACA

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1 BS2

The NM_001109878.2(TBX22):​c.-2-209_-2-200dupCACACACACA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.00014 (0 hom., 2 hem., cov: 0)
• Consequence: TBX22 NM_001109878.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.750

Genes affected

TBX22 (HGNC:11600): (T-box transcription factor 22) This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BS1: Variant frequency is greater than expected in population eas. gnomad4 allele frequency = 0.00014 (13/92966) while in subpopulation EAS AF= 0.000675 (2/2961). AF 95% confidence interval is 0.000119. There are 0 homozygotes in gnomad4. There are 2 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
• BS2: High Hemizygotes in GnomAd4 at 2 XL gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TBX22	NM_001109878.2	c.-2-209_-2-200dupCACACACACA		intron_variant	Intron 1 of 8	ENST00000373296.8	NP_001103348.1
TBX22	NM_001109879.2	c.-358-209_-358-200dupCACACACACA		intron_variant	Intron 1 of 8		NP_001103349.1
TBX22	NM_016954.2	c.-243_-242insACACACACAC		upstream_gene_variant			NP_058650.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TBX22	ENST00000373296.8	c.-2-241_-2-240insACACACACAC		intron_variant	Intron 1 of 8	5	NM_001109878.2	ENSP00000362393.3
TBX22	ENST00000476373.1	n.120-241_120-240insACACACACAC		intron_variant	Intron 1 of 1	3
TBX22	ENST00000626498.2	n.-2-241_-2-240insACACACACAC		intron_variant	Intron 1 of 8	2		ENSP00000487527.1
TBX22	ENST00000373294.8	c.-243_-242insACACACACAC		upstream_gene_variant		1		ENSP00000362390.5

Frequencies

GnomAD3 genomes AF: 0.000140 AC: 13 AN: 92948 Hom.: 0 Cov.: 0 AF XY: 0.0000996 AC XY: 2 AN XY: 20072

Gnomad AFR AF: 0.000116

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000353

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000673

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.000252

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000879

Gnomad OTH AF: 0.00

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.000140 AC: 13 AN: 92966 Hom.: 0 Cov.: 0 AF XY: 0.0000995 AC XY: 2 AN XY: 20100

Gnomad4 AFR AF: 0.000116

Gnomad4 AMR AF: 0.000353

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.000675

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.000252

Gnomad4 NFE AF: 0.0000879

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs200577659; hg19: chrX-79277526;