19-43913925-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003425.4(ZNF45):c.1511G>A(p.Arg504Lys) 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 1,612,264 control chromosomes in the GnomAD database, including 210,156 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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.1511G>A | p.Arg504Lys | missense_variant | 10/10 | ENST00000269973.10 | |
ZNF45-AS1 | NR_184050.1 | n.280-11217C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF45 | ENST00000269973.10 | c.1511G>A | p.Arg504Lys | missense_variant | 10/10 | 2 | NM_003425.4 | P1 | |
ZNF45-AS1 | ENST00000586247.3 | n.242-11217C>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.488 AC: 73590AN: 150698Hom.: 18761 Cov.: 30
GnomAD3 exomes AF: 0.538 AC: 134856AN: 250878Hom.: 38392 AF XY: 0.526 AC XY: 71379AN XY: 135574
GnomAD4 exome AF: 0.506 AC: 739506AN: 1461446Hom.: 191371 Cov.: 60 AF XY: 0.502 AC XY: 364869AN XY: 726970
GnomAD4 genome ? AF: 0.488 AC: 73650AN: 150818Hom.: 18785 Cov.: 30 AF XY: 0.494 AC XY: 36384AN XY: 73656
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at