chr19-56539080-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_020828.2(ZFP28):c.62C>T(p.Pro21Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000159 in 1,532,530 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020828.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZFP28 | NM_020828.2 | c.62C>T | p.Pro21Leu | missense_variant | Exon 1 of 8 | ENST00000301318.8 | NP_065879.1 | |
ZFP28 | NM_001308440.2 | c.62C>T | p.Pro21Leu | missense_variant | Exon 1 of 7 | NP_001295369.1 | ||
ZFP28 | XM_011526463.4 | c.182-545C>T | intron_variant | Intron 1 of 7 | XP_011524765.2 | |||
ZFP28 | XM_011526462.4 | c.-524C>T | upstream_gene_variant | XP_011524764.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZFP28 | ENST00000301318.8 | c.62C>T | p.Pro21Leu | missense_variant | Exon 1 of 8 | 1 | NM_020828.2 | ENSP00000301318.3 | ||
ZFP28 | ENST00000591844.5 | c.62C>T | p.Pro21Leu | missense_variant | Exon 1 of 7 | 1 | ENSP00000468603.1 | |||
ZFP28 | ENST00000594386.1 | n.12C>T | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 | |||||
ZFP28 | ENST00000589836.1 | n.-50C>T | upstream_gene_variant | 5 | ENSP00000465853.1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 151916Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000614 AC: 8AN: 130384Hom.: 0 AF XY: 0.0000278 AC XY: 2AN XY: 71858
GnomAD4 exome AF: 0.000165 AC: 228AN: 1380614Hom.: 0 Cov.: 34 AF XY: 0.000166 AC XY: 113AN XY: 681408
GnomAD4 genome AF: 0.000105 AC: 16AN: 151916Hom.: 0 Cov.: 31 AF XY: 0.0000539 AC XY: 4AN XY: 74198
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.62C>T (p.P21L) alteration is located in exon 1 (coding exon 1) of the ZFP28 gene. This alteration results from a C to T substitution at nucleotide position 62, causing the proline (P) at amino acid position 21 to be replaced by a leucine (L). 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