rs8373
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_053023.5(ZFP91):āc.619A>Gā(p.Ser207Gly) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.236 in 1,609,072 control chromosomes in the GnomAD database, including 45,849 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/22 in silico tools predict a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_053023.5 missense, splice_region
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 |
---|---|---|---|---|---|---|---|
ZFP91 | NM_053023.5 | c.619A>G | p.Ser207Gly | missense_variant, splice_region_variant | 5/11 | ENST00000316059.7 | |
ZFP91-CNTF | NR_024091.1 | n.787A>G | splice_region_variant, non_coding_transcript_exon_variant | 5/13 | |||
ZFP91 | NM_001197051.2 | c.618-2A>G | splice_acceptor_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZFP91 | ENST00000316059.7 | c.619A>G | p.Ser207Gly | missense_variant, splice_region_variant | 5/11 | 1 | NM_053023.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.211 AC: 32084AN: 151914Hom.: 3623 Cov.: 32
GnomAD3 exomes AF: 0.229 AC: 56179AN: 245094Hom.: 6834 AF XY: 0.234 AC XY: 31121AN XY: 132898
GnomAD4 exome AF: 0.238 AC: 346862AN: 1457040Hom.: 42221 Cov.: 30 AF XY: 0.239 AC XY: 173569AN XY: 725000
GnomAD4 genome ? AF: 0.211 AC: 32097AN: 152032Hom.: 3628 Cov.: 32 AF XY: 0.213 AC XY: 15854AN XY: 74290
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at