11-58579567-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_053023.5(ZFP91):āc.286C>Gā(p.Pro96Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000278 in 1,584,976 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (ā ).
Frequency
Consequence
NM_053023.5 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 |
---|---|---|---|---|---|---|---|---|
ZFP91 | NM_053023.5 | c.286C>G | p.Pro96Ala | missense_variant | 1/11 | ENST00000316059.7 | NP_444251.1 | |
ZFP91-CNTF | NR_024091.1 | n.454C>G | non_coding_transcript_exon_variant | 1/13 | ||||
ZFP91 | NM_001197051.2 | c.286C>G | p.Pro96Ala | missense_variant | 1/11 | NP_001183980.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZFP91 | ENST00000316059.7 | c.286C>G | p.Pro96Ala | missense_variant | 1/11 | 1 | NM_053023.5 | ENSP00000339030 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152142Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000289 AC: 6AN: 207288Hom.: 0 AF XY: 0.0000173 AC XY: 2AN XY: 115914
GnomAD4 exome AF: 0.0000181 AC: 26AN: 1432716Hom.: 0 Cov.: 32 AF XY: 0.0000154 AC XY: 11AN XY: 712878
GnomAD4 genome AF: 0.000118 AC: 18AN: 152260Hom.: 0 Cov.: 31 AF XY: 0.0000672 AC XY: 5AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 27, 2021 | The c.286C>G (p.P96A) alteration is located in exon 1 (coding exon 1) of the ZFP91 gene. This alteration results from a C to G substitution at nucleotide position 286, causing the proline (P) at amino acid position 96 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at