rs546293961
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000322927.3(ZNF335):āc.1214A>Cā(p.Lys405Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,606,336 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000322927.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF335 | NM_022095.4 | c.1214A>C | p.Lys405Thr | missense_variant | 8/28 | ENST00000322927.3 | NP_071378.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF335 | ENST00000322927.3 | c.1214A>C | p.Lys405Thr | missense_variant | 8/28 | 1 | NM_022095.4 | ENSP00000325326 | P1 | |
ZNF335 | ENST00000475002.1 | n.638A>C | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000654 AC: 16AN: 244598Hom.: 0 AF XY: 0.0000530 AC XY: 7AN XY: 131954
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1454010Hom.: 0 Cov.: 32 AF XY: 0.00000554 AC XY: 4AN XY: 722378
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152326Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74478
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 30, 2017 | Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at