20-63747082-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001369741.1(ZBTB46):c.1618G>T(p.Asp540Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000155 in 1,609,196 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001369741.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZBTB46 | NM_001369741.1 | c.1618G>T | p.Asp540Tyr | missense_variant | Exon 5 of 5 | ENST00000245663.9 | NP_001356670.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZBTB46 | ENST00000245663.9 | c.1618G>T | p.Asp540Tyr | missense_variant | Exon 5 of 5 | 5 | NM_001369741.1 | ENSP00000245663.3 | ||
ZBTB46 | ENST00000302995.2 | c.1618G>T | p.Asp540Tyr | missense_variant | Exon 5 of 7 | 2 | ENSP00000303102.2 | |||
ZBTB46 | ENST00000395104.5 | c.1618G>T | p.Asp540Tyr | missense_variant | Exon 4 of 4 | 2 | ENSP00000378536.1 |
Frequencies
GnomAD3 genomes AF: 0.0000790 AC: 12AN: 151962Hom.: 0 Cov.: 28
GnomAD4 exome AF: 0.00000892 AC: 13AN: 1457234Hom.: 0 Cov.: 43 AF XY: 0.00000965 AC XY: 7AN XY: 725132
GnomAD4 genome AF: 0.0000790 AC: 12AN: 151962Hom.: 0 Cov.: 28 AF XY: 0.0000809 AC XY: 6AN XY: 74210
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1618G>T (p.D540Y) alteration is located in exon 5 (coding exon 4) of the ZBTB46 gene. This alteration results from a G to T substitution at nucleotide position 1618, causing the aspartic acid (D) at amino acid position 540 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at