chr7-42937503-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_031903.3(MRPL32):c.494C>T(p.Pro165Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000117 in 1,613,998 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_031903.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152064Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000215 AC: 54AN: 251234Hom.: 0 AF XY: 0.000273 AC XY: 37AN XY: 135776
GnomAD4 exome AF: 0.000120 AC: 176AN: 1461816Hom.: 1 Cov.: 37 AF XY: 0.000164 AC XY: 119AN XY: 727208
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152182Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74392
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.494C>T (p.P165L) alteration is located in exon 3 (coding exon 3) of the MRPL32 gene. This alteration results from a C to T substitution at nucleotide position 494, causing the proline (P) at amino acid position 165 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