7-42934967-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_031903.3(MRPL32):c.143C>T(p.Ala48Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000834 in 1,438,286 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL32 | ENST00000223324.3 | c.143C>T | p.Ala48Val | missense_variant | Exon 2 of 3 | 1 | NM_031903.3 | ENSP00000223324.2 | ||
MRPL32 | ENST00000432845.1 | n.143C>T | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 | ENSP00000415581.1 | ||||
MRPL32 | ENST00000413995.1 | n.-56C>T | upstream_gene_variant | 2 | ENSP00000391562.1 | |||||
MRPL32 | ENST00000496564.1 | n.-76C>T | upstream_gene_variant | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000171 AC: 4AN: 233830Hom.: 1 AF XY: 0.0000316 AC XY: 4AN XY: 126648
GnomAD4 exome AF: 0.00000834 AC: 12AN: 1438286Hom.: 1 Cov.: 31 AF XY: 0.0000126 AC XY: 9AN XY: 714960
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.143C>T (p.A48V) alteration is located in exon 2 (coding exon 2) of the MRPL32 gene. This alteration results from a C to T substitution at nucleotide position 143, causing the alanine (A) at amino acid position 48 to be replaced by a valine (V). 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