X-71592146-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_052957.5(GCNA):c.84C>G(p.Ser28Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052957.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 4AN: 111148Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 33336 FAILED QC
GnomAD3 exomes AF: 0.0000274 AC: 5AN: 182453Hom.: 0 AF XY: 0.0000448 AC XY: 3AN XY: 66929
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000293 AC: 32AN: 1093114Hom.: 0 Cov.: 28 AF XY: 0.0000223 AC XY: 8AN XY: 359012
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000360 AC: 4AN: 111148Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 33336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.84C>G (p.S28R) alteration is located in exon 3 (coding exon 2) of the ACRC gene. This alteration results from a C to G substitution at nucleotide position 84, causing the serine (S) at amino acid position 28 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