rs201180565
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_022095.4(ZNF335):c.648G>T(p.Pro216=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,460,284 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. Synonymous variant affecting the same amino acid position (i.e. P216P) has been classified as Likely benign.
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF335 | NM_022095.4 | c.648G>T | p.Pro216= | synonymous_variant | 5/28 | ENST00000322927.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF335 | ENST00000322927.3 | c.648G>T | p.Pro216= | synonymous_variant | 5/28 | 1 | NM_022095.4 | P1 | |
ZNF335 | ENST00000476822.1 | n.981G>T | non_coding_transcript_exon_variant | 3/5 | 2 | ||||
ZNF335 | ENST00000494955.1 | n.959G>T | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248646Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135098
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1460284Hom.: 0 Cov.: 73 AF XY: 0.00000826 AC XY: 6AN XY: 726478
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at