chr11-8684852-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000990.5(RPL27A):c.278A>G(p.Asn93Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000149 in 1,614,158 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000990.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251470Hom.: 1 AF XY: 0.0000809 AC XY: 11AN XY: 135910
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461816Hom.: 1 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727200
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152342Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.278A>G (p.N93S) alteration is located in exon 4 (coding exon 4) of the RPL27A gene. This alteration results from a A to G substitution at nucleotide position 278, causing the asparagine (N) at amino acid position 93 to be replaced by a serine (S). 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