19-35714814-GA-CT

Variant names:

• chr19-35714814-GA-CT
• NM_014383.3:c.188_189delGAinsCT
• ZBTB32 p.Gly63Ala

Variant summary

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

The NM_014383.3(ZBTB32):​c.188_189delGAinsCT​(p.Gly63Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type MNV, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G63E) has been classified as Uncertain significance.

• Frequency: Genomes: not found (cov: 33)
• Consequence: ZBTB32 NM_014383.3 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.145
• Publications: 0 publications found

Genes affected

ZBTB32 (HGNC:16763): (zinc finger and BTB domain containing 32) Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; identical protein binding activity; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000307882 (HGNC:):

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_014383.3. 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
	ZBTB32	NM_014383.3	MANE Select	c.188_189delGAinsCT	p.Gly63Ala	missense	N/A	NP_055198.1	Q9Y2Y4
	ZBTB32	NM_001316902.2		c.6-649_6-648delGAinsCT		intron	N/A	NP_001303831.1
	ZBTB32	NM_001316903.2		c.-86-649_-86-648delGAinsCT		intron	N/A	NP_001303832.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZBTB32	ENST00000392197.7	TSL:5 MANE Select	c.188_189delGAinsCT	p.Gly63Ala	missense	N/A	ENSP00000376035.1	Q9Y2Y4
	ZBTB32	ENST00000262630.7	TSL:1	c.188_189delGAinsCT	p.Gly63Ala	missense	N/A	ENSP00000262630.3	Q9Y2Y4
	ZBTB32	ENST00000481182.1	TSL:1	n.188_189delGAinsCT		non_coding_transcript_exon	Exon 2 of 4	ENSP00000433657.1	A0A0C4DGF1

Frequencies

GnomAD3 genomes Cov.: 33

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

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.14

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: chr19-36205716;