ZBTB17 p.Phe334Phe

Variant names:

• chr1-15944764-A-A
• NM_003443.3:c.

Your query was ambiguous. Multiple possible variants found:

• chr1-15944765--
• chr1-15944765-G-A

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_003443.3(ZBTB17):​c. variant causes a exon region change. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 33)
• Consequence: ZBTB17 NM_003443.3 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 4.87
• Publications: 0 publications found

Genes affected

ZBTB17 (HGNC:12936): (zinc finger and BTB domain containing 17) This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_003443.3. 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
	ZBTB17	NM_003443.3	MANE Select	c.		exon_region	Exon 8 of 16	NP_003434.2	Q13105-1
	ZBTB17	NM_001287603.2		c.		exon_region	Exon 8 of 16	NP_001274532.1	Q13105-2
	ZBTB17	NM_001324138.2		c.		exon_region	Exon 7 of 15	NP_001311067.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZBTB17	ENST00000375743.9	TSL:1 MANE Select	c.		exon_region	Exon 8 of 16	ENSP00000364895.4	Q13105-1
	ZBTB17	ENST00000375733.6	TSL:1	c.		exon_region	Exon 8 of 16	ENSP00000364885.2	Q13105-2
	ZBTB17	ENST00000894624.1		c.		exon_region	Exon 7 of 15	ENSP00000564683.1

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 76

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		4.9

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chr1-16271259;