8-144099393-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_030974.4(SHARPIN):c.806G>A(p.Arg269His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000192 in 1,613,240 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030974.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000808 AC: 2AN: 247594Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134358
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1460928Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 726746
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152312Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.806G>A (p.R269H) alteration is located in exon 6 (coding exon 6) of the SHARPIN gene. This alteration results from a G to A substitution at nucleotide position 806, causing the arginine (R) at amino acid position 269 to be replaced by a histidine (H). 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