3-131468101-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_007208.4(MRPL3):āc.884G>Cā(p.Cys295Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000783 in 1,405,480 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as not provided (no stars).
Frequency
Consequence
NM_007208.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL3 | ENST00000264995.8 | c.884G>C | p.Cys295Ser | missense_variant | Exon 9 of 10 | 1 | NM_007208.4 | ENSP00000264995.2 | ||
MRPL3 | ENST00000425847.6 | c.965G>C | p.Cys322Ser | missense_variant | Exon 10 of 11 | 2 | ENSP00000398536.2 | |||
MRPL3 | ENST00000511168.5 | c.926G>C | p.Cys309Ser | missense_variant | Exon 9 of 10 | 2 | ENSP00000424107.1 | |||
MRPL3 | ENST00000510043.1 | n.308G>C | non_coding_transcript_exon_variant | Exon 3 of 4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000936 AC: 2AN: 213712Hom.: 0 AF XY: 0.00000859 AC XY: 1AN XY: 116358
GnomAD4 exome AF: 0.00000783 AC: 11AN: 1405480Hom.: 0 Cov.: 28 AF XY: 0.00000858 AC XY: 6AN XY: 699534
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Combined oxidative phosphorylation defect type 9 Other:1
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at