chr12-93476987-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014050.4(MRPL42):c.104C>T(p.Thr35Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000348 in 1,608,028 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014050.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPL42 | NM_014050.4 | c.104C>T | p.Thr35Met | missense_variant | Exon 3 of 6 | ENST00000549982.6 | NP_054769.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249468Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134904
GnomAD4 exome AF: 0.0000371 AC: 54AN: 1455862Hom.: 0 Cov.: 29 AF XY: 0.0000373 AC XY: 27AN XY: 724552
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.104C>T (p.T35M) alteration is located in exon 3 (coding exon 2) of the MRPL42 gene. This alteration results from a C to T substitution at nucleotide position 104, causing the threonine (T) at amino acid position 35 to be replaced by a methionine (M). 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