chr5-36183856-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000274254.9(SKP2):c.1078G>A(p.Gly360Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000586 in 1,603,974 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000274254.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SKP2 | NM_005983.4 | c.*1825G>A | 3_prime_UTR_variant | 10/10 | ENST00000274255.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SKP2 | ENST00000274255.11 | c.*1825G>A | 3_prime_UTR_variant | 10/10 | 1 | NM_005983.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152164Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000412 AC: 10AN: 242774Hom.: 0 AF XY: 0.0000382 AC XY: 5AN XY: 131020
GnomAD4 exome AF: 0.0000427 AC: 62AN: 1451692Hom.: 0 Cov.: 30 AF XY: 0.0000443 AC XY: 32AN XY: 721702
GnomAD4 genome AF: 0.000210 AC: 32AN: 152282Hom.: 1 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74448
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2024 | The c.1078G>A (p.G360R) alteration is located in exon 10 (coding exon 10) of the SKP2 gene. This alteration results from a G to A substitution at nucleotide position 1078, causing the glycine (G) at amino acid position 360 to be replaced by an arginine (R). 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