20-23364473-G-A
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS1
The NM_022482.5(GZF1):c.90G>A(p.Leu30=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00122 in 1,614,230 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. L30L) has been classified as Likely benign.
Frequency
Consequence
NM_022482.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GZF1 | NM_022482.5 | c.90G>A | p.Leu30= | synonymous_variant | 2/6 | ENST00000338121.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GZF1 | ENST00000338121.10 | c.90G>A | p.Leu30= | synonymous_variant | 2/6 | 1 | NM_022482.5 | P1 | |
GZF1 | ENST00000377051.2 | c.90G>A | p.Leu30= | synonymous_variant | 1/5 | 1 | P1 | ||
GZF1 | ENST00000424216.1 | c.90G>A | p.Leu30= | synonymous_variant | 3/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000755 AC: 115AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000636 AC: 160AN: 251410Hom.: 0 AF XY: 0.000611 AC XY: 83AN XY: 135878
GnomAD4 exome AF: 0.00127 AC: 1853AN: 1461870Hom.: 2 Cov.: 32 AF XY: 0.00125 AC XY: 911AN XY: 727230
GnomAD4 genome ? AF: 0.000755 AC: 115AN: 152360Hom.: 0 Cov.: 33 AF XY: 0.000711 AC XY: 53AN XY: 74506
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Apr 01, 2024 | GZF1: BP4 - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 22, 2023 | - - |
GZF1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 10, 2022 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at