NM_001320669.3:c.1468G>A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001320669.3(ZFP30):c.1468G>A(p.Gly490Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000744 in 1,612,566 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001320669.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZFP30 | NM_001320669.3 | c.1468G>A | p.Gly490Ser | missense_variant | Exon 6 of 6 | ENST00000684514.1 | NP_001307598.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZFP30 | ENST00000684514.1 | c.1468G>A | p.Gly490Ser | missense_variant | Exon 6 of 6 | NM_001320669.3 | ENSP00000508019.1 | |||
ZFP30 | ENST00000351218.6 | c.1468G>A | p.Gly490Ser | missense_variant | Exon 6 of 6 | 1 | ENSP00000343581.1 | |||
ZFP30 | ENST00000514101.6 | c.1468G>A | p.Gly490Ser | missense_variant | Exon 6 of 6 | 1 | ENSP00000422930.2 | |||
ZFP30 | ENST00000589018.5 | c.232+8192G>A | intron_variant | Intron 4 of 4 | 5 | ENSP00000467387.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250072Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135162
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1460332Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 726368
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74438
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1468G>A (p.G490S) alteration is located in exon 6 (coding exon 4) of the ZFP30 gene. This alteration results from a G to A substitution at nucleotide position 1468, causing the glycine (G) at amino acid position 490 to be replaced by a serine (S). 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