rs150379905
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001376491.1(ZNF165):c.1171C>A(p.Arg391Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,872 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_001376491.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF165 | NM_001376491.1 | c.1171C>A | p.Arg391Arg | synonymous_variant | Exon 4 of 4 | ENST00000683778.1 | NP_001363420.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF165 | ENST00000683778.1 | c.1171C>A | p.Arg391Arg | synonymous_variant | Exon 4 of 4 | NM_001376491.1 | ENSP00000507525.1 | |||
ZNF165 | ENST00000377325.2 | c.1171C>A | p.Arg391Arg | synonymous_variant | Exon 4 of 4 | 1 | ENSP00000366542.1 | |||
ZSCAN16-AS1 | ENST00000660873.1 | n.78-28695G>T | intron_variant | Intron 1 of 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461872Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727236
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.