8-30547416-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001008712.3(RBPMS):c.653C>T(p.Pro218Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000117 in 1,593,086 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001008712.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152136Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000952 AC: 22AN: 231182Hom.: 0 AF XY: 0.0000961 AC XY: 12AN XY: 124934
GnomAD4 exome AF: 0.000124 AC: 178AN: 1440950Hom.: 1 Cov.: 31 AF XY: 0.000117 AC XY: 84AN XY: 715982
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152136Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74302
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.653C>T (p.P218L) alteration is located in exon 7 (coding exon 7) of the RBPMS gene. This alteration results from a C to T substitution at nucleotide position 653, causing the proline (P) at amino acid position 218 to be replaced by a leucine (L). 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