rs6971207

Variant names:

• chr7-139820264-C-A
• rs6971207
• ENST00000336425.10:c.-79-9048C>A

Your query was ambiguous. Multiple possible variants found:

• chr7-139820264-C-A
• chr7-139820264-C-G
• chr7-139820264-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001130966.5(TBXAS1):​c.-79-9048C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.114 in 151,920 control chromosomes in the GnomAD database, including 2,233 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.11 (2233 hom., cov: 31)
• Consequence: TBXAS1 NM_001130966.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.206
• Publications: 3 publications found

Genes affected

TBXAS1 (HGNC:11609): (thromboxane A synthase 1) This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

TBXAS1 Gene-Disease associations (from GenCC):

• ghosal hematodiaphyseal dysplasia

  Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE, SUPPORTIVE Submitted by: G2P, Orphanet, PanelApp Australia, Labcorp Genetics (formerly Invitae), ClinGen

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.298 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001130966.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TBXAS1	NM_001130966.5		c.-79-9048C>A		intron	N/A	NP_001124438.2	P24557-1
	TBXAS1	NM_001166254.4		c.-113+32838C>A		intron	N/A	NP_001159726.1	P24557-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TBXAS1	ENST00000336425.10	TSL:1	c.-79-9048C>A		intron	N/A	ENSP00000338087.7	P24557-1
	TBXAS1	ENST00000425687.5	TSL:1	c.-113+32838C>A		intron	N/A	ENSP00000388736.1	P24557-2
	TBXAS1	ENST00000887871.1		c.-79-9048C>A		intron	N/A	ENSP00000557930.1

Frequencies

GnomAD3 genomes AF: 0.114 AC: 17269 AN: 151802 Hom.: 2220 Cov.: 31

Gnomad AFR AF: 0.280

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.181

Gnomad ASJ AF: 0.0118

Gnomad EAS AF: 0.311

Gnomad SAS AF: 0.0268

Gnomad FIN AF: 0.0123

Gnomad MID AF: 0.0475

Gnomad NFE AF: 0.0125

Gnomad OTH AF: 0.0932

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

GnomAD4 genome AF: 0.114 AC: 17324 AN: 151920 Hom.: 2233 Cov.: 31 AF XY: 0.115 AC XY: 8536 AN XY: 74282

African (AFR) AF: 0.280 AC: 11583 AN: 41378

American (AMR) AF: 0.182 AC: 2782 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.0118 AC: 41 AN: 3470

East Asian (EAS) AF: 0.311 AC: 1594 AN: 5126

South Asian (SAS) AF: 0.0262 AC: 126 AN: 4812

European-Finnish (FIN) AF: 0.0123 AC: 130 AN: 10578

Middle Eastern (MID) AF: 0.0442 AC: 13 AN: 294

European-Non Finnish (NFE) AF: 0.0125 AC: 852 AN: 67978

Other (OTH) AF: 0.0960 AC: 203 AN: 2114

Alfa AF: 0.0452 Hom.: 3031

Bravo AF: 0.141

Asia WGS AF: 0.175 AC: 609 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	6.9
DANN	Benign	0.61
PhyloP100		0.21
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs6971207; hg19: chr7-139520063;