19-20544633-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001159293.2(ZNF737):c.1570C>T(p.Leu524Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000652 in 1,609,922 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001159293.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF737 | NM_001159293.2 | c.1570C>T | p.Leu524Phe | missense_variant | 4/4 | ENST00000427401.9 | |
LOC105372316 | XR_936408.3 | n.279-25306G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF737 | ENST00000427401.9 | c.1570C>T | p.Leu524Phe | missense_variant | 4/4 | 2 | NM_001159293.2 | P1 | |
ENST00000653011.1 | n.335-25306G>A | intron_variant, non_coding_transcript_variant | |||||||
ZNF737 | ENST00000596530.1 | c.79C>T | p.Leu27Phe | missense_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152032Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000943 AC: 23AN: 243998Hom.: 0 AF XY: 0.0000905 AC XY: 12AN XY: 132550
GnomAD4 exome AF: 0.0000700 AC: 102AN: 1457772Hom.: 0 Cov.: 35 AF XY: 0.0000717 AC XY: 52AN XY: 725044
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152150Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74380
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at