7-42932439-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031903.3(MRPL32):c.53G>A(p.Gly18Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000352 in 1,612,820 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPL32 | NM_031903.3 | c.53G>A | p.Gly18Glu | missense_variant | 1/3 | ENST00000223324.3 | NP_114109.1 | |
MRPL32 | NR_156497.1 | n.64G>A | non_coding_transcript_exon_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL32 | ENST00000223324.3 | c.53G>A | p.Gly18Glu | missense_variant | 1/3 | 1 | NM_031903.3 | ENSP00000223324 | P1 | |
MRPL32 | ENST00000432845.1 | c.53G>A | p.Gly18Glu | missense_variant, NMD_transcript_variant | 1/3 | 2 | ENSP00000415581 |
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152088Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000116 AC: 29AN: 250520Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 135540
GnomAD4 exome AF: 0.000372 AC: 543AN: 1460732Hom.: 0 Cov.: 32 AF XY: 0.000335 AC XY: 243AN XY: 726430
GnomAD4 genome AF: 0.000164 AC: 25AN: 152088Hom.: 0 Cov.: 31 AF XY: 0.0000808 AC XY: 6AN XY: 74278
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 01, 2023 | The c.53G>A (p.G18E) alteration is located in exon 1 (coding exon 1) of the MRPL32 gene. This alteration results from a G to A substitution at nucleotide position 53, causing the glycine (G) at amino acid position 18 to be replaced by a glutamic acid (E). 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