rs209383

Variant names:

• chr10-42620933-A-T
• rs209383
• NM_006955.3:c.250+10996T>A

Variant summary

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

The NM_006955.3(ZNF33B):​c.250+10996T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0303 in 152,224 control chromosomes in the GnomAD database, including 200 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 0.030 (200 hom., cov: 30)
• Consequence: ZNF33B NM_006955.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29
• Publications: 1 publications found

Genes affected

ZNF33B (HGNC:13097): (zinc finger protein 33B) This gene encodes a member of the zinc finger family of proteins. This gene shows decreased expression in cumulus cells derived from patients undergoing controlled ovarian stimulation. This gene is present in a gene cluster with several related zinc finger genes in the pericentromeric region of chromosome 10. Pseudogenes have been identified on chromosomes 7 and 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.126 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ZNF33B	NM_006955.3	c.250+10996T>A		intron_variant	Intron 4 of 4	ENST00000359467.8	NP_008886.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ZNF33B	ENST00000359467.8	c.250+10996T>A		intron_variant	Intron 4 of 4	1	NM_006955.3	ENSP00000352444.2
ZNF33B	ENST00000613419.4	c.250+10996T>A		intron_variant	Intron 3 of 3	5		ENSP00000481265.1
ZNF33B	ENST00000465206.5	c.169+10996T>A		intron_variant	Intron 2 of 3	3		ENSP00000480979.1
ZNF33B	ENST00000486187.5	n.230-6575T>A		intron_variant	Intron 3 of 5	2

Frequencies

GnomAD3 genomes AF: 0.0303 AC: 4609 AN: 152106 Hom.: 201 Cov.: 30

Gnomad AFR AF: 0.0818

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00970

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.134

Gnomad SAS AF: 0.0600

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.0127

Gnomad NFE AF: 0.000441

Gnomad OTH AF: 0.0253

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

GnomAD4 genome AF: 0.0303 AC: 4605 AN: 152224 Hom.: 200 Cov.: 30 AF XY: 0.0315 AC XY: 2347 AN XY: 74434

African (AFR) AF: 0.0816 AC: 3387 AN: 41528

American (AMR) AF: 0.00968 AC: 148 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3468

East Asian (EAS) AF: 0.134 AC: 696 AN: 5182

South Asian (SAS) AF: 0.0596 AC: 287 AN: 4816

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10608

Middle Eastern (MID) AF: 0.0136 AC: 4 AN: 294

European-Non Finnish (NFE) AF: 0.000441 AC: 30 AN: 68018

Other (OTH) AF: 0.0250 AC: 53 AN: 2116

Alfa AF: 0.0209 Hom.: 12

Bravo AF: 0.0329

Asia WGS AF: 0.0870 AC: 302 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.035
DANN	Benign	0.49
PhyloP100		-1.3
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: rs209383; hg19: chr10-43116381;