7-42935011-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000223324.3(MRPL32):āc.187A>Cā(p.Ser63Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000781 in 1,614,084 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000223324.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPL32 | NM_031903.3 | c.187A>C | p.Ser63Arg | missense_variant | 2/3 | ENST00000223324.3 | NP_114109.1 | |
MRPL32 | NR_156497.1 | n.198A>C | non_coding_transcript_exon_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL32 | ENST00000223324.3 | c.187A>C | p.Ser63Arg | missense_variant | 2/3 | 1 | NM_031903.3 | ENSP00000223324.2 | ||
MRPL32 | ENST00000432845.1 | n.187A>C | non_coding_transcript_exon_variant | 2/3 | 2 | ENSP00000415581.1 | ||||
MRPL32 | ENST00000413995.1 | n.-12A>C | upstream_gene_variant | 2 | ENSP00000391562.1 | |||||
MRPL32 | ENST00000496564.1 | n.-32A>C | upstream_gene_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000525 AC: 8AN: 152238Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251258Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135802
GnomAD4 exome AF: 0.0000807 AC: 118AN: 1461728Hom.: 1 Cov.: 31 AF XY: 0.0000839 AC XY: 61AN XY: 727166
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152356Hom.: 0 Cov.: 32 AF XY: 0.0000805 AC XY: 6AN XY: 74510
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2022 | The c.187A>C (p.S63R) alteration is located in exon 2 (coding exon 2) of the MRPL32 gene. This alteration results from a A to C substitution at nucleotide position 187, causing the serine (S) at amino acid position 63 to be replaced by an arginine (R). 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