rs495248

Positions:

• chr11-114215695-G-A

Variant summary

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

The NM_006006.6(ZBTB16):​c.1454-26472G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.294 in 152,152 control chromosomes in the GnomAD database, including 6,995 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 0.29 (6995 hom., cov: 33)
• Consequence: ZBTB16 NM_006006.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.161

Genes affected

ZBTB16 (HGNC:12930): (zinc finger and BTB domain containing 16) This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.363 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ZBTB16	NM_006006.6	c.1454-26472G>A		intron_variant		ENST00000335953.9

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ZBTB16	ENST00000335953.9	c.1454-26472G>A		intron_variant		1	NM_006006.6	P1
	ENST00000544925.1	n.57-4743C>T		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.294 AC: 44693 AN: 152032 Hom.: 6983 Cov.: 33

Gnomad AFR AF: 0.234

Gnomad AMI AF: 0.212

Gnomad AMR AF: 0.270

Gnomad ASJ AF: 0.194

Gnomad EAS AF: 0.308

Gnomad SAS AF: 0.376

Gnomad FIN AF: 0.500

Gnomad MID AF: 0.210

Gnomad NFE AF: 0.305

Gnomad OTH AF: 0.261

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

GnomAD4 genome AF: 0.294 AC: 44745 AN: 152152 Hom.: 6995 Cov.: 33 AF XY: 0.303 AC XY: 22553 AN XY: 74404

Gnomad4 AFR AF: 0.234

Gnomad4 AMR AF: 0.270

Gnomad4 ASJ AF: 0.194

Gnomad4 EAS AF: 0.309

Gnomad4 SAS AF: 0.378

Gnomad4 FIN AF: 0.500

Gnomad4 NFE AF: 0.305

Gnomad4 OTH AF: 0.264

Alfa AF: 0.292 Hom.: 11135

Bravo AF: 0.272

Asia WGS AF: 0.378 AC: 1312 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.92
DANN	Benign	0.38

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: rs495248; hg19: chr11-114086417;