3-131462868-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_007208.4(MRPL3):āc.902A>Gā(p.Asp301Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000435 in 1,607,716 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_007208.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL3 | ENST00000264995.8 | c.902A>G | p.Asp301Gly | missense_variant | Exon 10 of 10 | 1 | NM_007208.4 | ENSP00000264995.2 | ||
MRPL3 | ENST00000425847.6 | c.983A>G | p.Asp328Gly | missense_variant | Exon 11 of 11 | 2 | ENSP00000398536.2 | |||
MRPL3 | ENST00000511168.5 | c.944A>G | p.Asp315Gly | missense_variant | Exon 10 of 10 | 2 | ENSP00000424107.1 | |||
MRPL3 | ENST00000510043.1 | n.326A>G | non_coding_transcript_exon_variant | Exon 4 of 4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000323 AC: 8AN: 247786Hom.: 0 AF XY: 0.0000597 AC XY: 8AN XY: 133922
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1455534Hom.: 0 Cov.: 30 AF XY: 0.00000691 AC XY: 5AN XY: 723828
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.902A>G (p.D301G) alteration is located in exon 10 (coding exon 10) of the MRPL3 gene. This alteration results from a A to G substitution at nucleotide position 902, causing the aspartic acid (D) at amino acid position 301 to be replaced by a glycine (G). 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