20-45950262-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_022095.4(ZNF335):c.3444C>A(p.Thr1148Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,399,328 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_022095.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF335 | NM_022095.4 | c.3444C>A | p.Thr1148Thr | synonymous_variant | Exon 22 of 28 | ENST00000322927.3 | NP_071378.1 | |
ZNF335 | XM_047440363.1 | c.3444C>A | p.Thr1148Thr | synonymous_variant | Exon 21 of 27 | XP_047296319.1 | ||
ZNF335 | XM_005260504.5 | c.3441C>A | p.Thr1147Thr | synonymous_variant | Exon 21 of 27 | XP_005260561.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000498 AC: 1AN: 200710Hom.: 0 AF XY: 0.00000942 AC XY: 1AN XY: 106124
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1399328Hom.: 0 Cov.: 34 AF XY: 0.00000145 AC XY: 1AN XY: 689308
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at