rs388706
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003425.4(ZNF45):āc.895A>Gā(p.Thr299Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.504 in 1,613,016 control chromosomes in the GnomAD database, including 210,156 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003425.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF45 | NM_003425.4 | c.895A>G | p.Thr299Ala | missense_variant | 10/10 | ENST00000269973.10 | |
ZNF45-AS1 | NR_184050.1 | n.280-10601T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF45 | ENST00000269973.10 | c.895A>G | p.Thr299Ala | missense_variant | 10/10 | 2 | NM_003425.4 | P1 | |
ZNF45-AS1 | ENST00000586247.3 | n.242-10601T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.485 AC: 73496AN: 151638Hom.: 18684 Cov.: 32
GnomAD3 exomes AF: 0.537 AC: 134632AN: 250774Hom.: 38346 AF XY: 0.526 AC XY: 71241AN XY: 135522
GnomAD4 exome AF: 0.506 AC: 739433AN: 1461258Hom.: 191447 Cov.: 63 AF XY: 0.502 AC XY: 364809AN XY: 726892
GnomAD4 genome ? AF: 0.485 AC: 73558AN: 151758Hom.: 18709 Cov.: 32 AF XY: 0.490 AC XY: 36328AN XY: 74152
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at