rs1022528700
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_024741.3(ZNF408):c.36G>A(p.Lys12Lys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,840 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_024741.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF408 | ENST00000311764.3 | c.36G>A | p.Lys12Lys | synonymous_variant | Exon 1 of 5 | 1 | NM_024741.3 | ENSP00000309606.2 | ||
ZNF408 | ENST00000526410.1 | n.53G>A | non_coding_transcript_exon_variant | Exon 1 of 3 | 3 | |||||
ZNF408 | ENST00000531866.1 | n.54G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 249886Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135212
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461840Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727224
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at