rs10424893
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000441304.2(ZNF844):āc.152T>Cā(p.Leu51Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.165 in 1,463,466 control chromosomes in the GnomAD database, including 28,569 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/14 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000441304.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF844 | NM_001136501.3 | c.213T>C | p.Val71= | synonymous_variant | 4/4 | ENST00000439326.8 | |
ZNF844 | NR_134326.2 | n.295T>C | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF844 | ENST00000441304.2 | c.152T>C | p.Leu51Ser | missense_variant | 3/3 | 1 | |||
ZNF844 | ENST00000439326.8 | c.213T>C | p.Val71= | synonymous_variant | 4/4 | 1 | NM_001136501.3 | P1 | |
ZNF844 | ENST00000550826.1 | c.-259T>C | 5_prime_UTR_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.275 AC: 41823AN: 152042Hom.: 9313 Cov.: 33
GnomAD3 exomes AF: 0.166 AC: 18140AN: 109232Hom.: 2494 AF XY: 0.158 AC XY: 9169AN XY: 57874
GnomAD4 exome AF: 0.152 AC: 199041AN: 1311306Hom.: 19214 Cov.: 32 AF XY: 0.150 AC XY: 96365AN XY: 640412
GnomAD4 genome ? AF: 0.275 AC: 41910AN: 152160Hom.: 9355 Cov.: 33 AF XY: 0.270 AC XY: 20116AN XY: 74404
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at