chr5-36153033-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005983.4(SKP2):āc.271A>Gā(p.Asn91Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0000644 in 1,613,772 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N91K) has been classified as Uncertain significance.
Frequency
Consequence
NM_005983.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SKP2 | NM_005983.4 | c.271A>G | p.Asn91Asp | missense_variant | 2/10 | ENST00000274255.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SKP2 | ENST00000274255.11 | c.271A>G | p.Asn91Asp | missense_variant | 2/10 | 1 | NM_005983.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249820Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135424
GnomAD4 exome AF: 0.0000629 AC: 92AN: 1461614Hom.: 0 Cov.: 31 AF XY: 0.0000619 AC XY: 45AN XY: 727044
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74334
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at