19-12185789-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003437.5(ZNF136):c.8C>T(p.Ser3Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,613,048 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003437.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF136 | NM_003437.5 | c.8C>T | p.Ser3Leu | missense_variant | 2/4 | ENST00000343979.6 | |
ZNF136 | NM_001348014.2 | c.-89C>T | 5_prime_UTR_variant | 3/5 | |||
ZNF136 | NM_001348013.2 | c.-68-325C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF136 | ENST00000343979.6 | c.8C>T | p.Ser3Leu | missense_variant | 2/4 | 1 | NM_003437.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152072Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250440Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135454
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1460976Hom.: 1 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 726852
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152072Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74256
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at