rs9268230

Positions:

• chr6-32319790-G-A
• chr6-32319790-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001286474.2(TSBP1):​c.532+2696C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.685 in 151,006 control chromosomes in the GnomAD database, including 35,671 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 0.69 (35671 hom., cov: 30)
• Consequence: TSBP1 NM_001286474.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.21

Genes affected

TSBP1 (HGNC:13922): (testis expressed basic protein 1) Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

TSBP1-AS1 (HGNC:39756): (TSBP1 and BTNL2 antisense RNA 1)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.794 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
TSBP1	NM_001286474.2	c.532+2696C>T		intron_variant		ENST00000533191.6
TSBP1-AS1	NR_136245.1	n.243-45990G>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
TSBP1	ENST00000533191.6	c.532+2696C>T		intron_variant		1	NM_001286474.2	A2
TSBP1-AS1	ENST00000645134.1	n.87+64376G>A		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.685 AC: 103363 AN: 150888 Hom.: 35638 Cov.: 30

Gnomad AFR AF: 0.686

Gnomad AMI AF: 0.736

Gnomad AMR AF: 0.671

Gnomad ASJ AF: 0.751

Gnomad EAS AF: 0.773

Gnomad SAS AF: 0.816

Gnomad FIN AF: 0.609

Gnomad MID AF: 0.774

Gnomad NFE AF: 0.679

Gnomad OTH AF: 0.695

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

GnomAD4 genome AF: 0.685 AC: 103445 AN: 151006 Hom.: 35671 Cov.: 30 AF XY: 0.683 AC XY: 50381 AN XY: 73734

Gnomad4 AFR AF: 0.686

Gnomad4 AMR AF: 0.671

Gnomad4 ASJ AF: 0.751

Gnomad4 EAS AF: 0.774

Gnomad4 SAS AF: 0.816

Gnomad4 FIN AF: 0.609

Gnomad4 NFE AF: 0.679

Gnomad4 OTH AF: 0.692

Alfa AF: 0.693 Hom.: 7212

Bravo AF: 0.689

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.69
DANN	Benign	0.50

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

Publications

LitVar

Other links and lift over

dbSNP: rs9268230; hg19: chr6-32287567;