8-66429246-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_015169.4(RRS1):c.115C>A(p.Leu39Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000191 in 1,603,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. L39L) has been classified as Benign.
Frequency
Consequence
NM_015169.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000131 AC: 20AN: 152178Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000115 AC: 26AN: 226212Hom.: 0 AF XY: 0.000146 AC XY: 18AN XY: 122944
GnomAD4 exome AF: 0.000198 AC: 287AN: 1451334Hom.: 0 Cov.: 31 AF XY: 0.000187 AC XY: 135AN XY: 721198
GnomAD4 genome AF: 0.000131 AC: 20AN: 152178Hom.: 0 Cov.: 31 AF XY: 0.0000673 AC XY: 5AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.115C>A (p.L39M) alteration is located in exon 1 (coding exon 1) of the RRS1 gene. This alteration results from a C to A substitution at nucleotide position 115, causing the leucine (L) at amino acid position 39 to be replaced by a methionine (M). 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