NM_014078.6:c.488T>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014078.6(MRPL13):āc.488T>Cā(p.Ile163Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000282 in 1,416,808 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014078.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000921 AC: 2AN: 217064Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 117958
GnomAD4 exome AF: 0.00000282 AC: 4AN: 1416808Hom.: 0 Cov.: 30 AF XY: 0.00000142 AC XY: 1AN XY: 703476
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.488T>C (p.I163T) alteration is located in exon 6 (coding exon 6) of the MRPL13 gene. This alteration results from a T to C substitution at nucleotide position 488, causing the isoleucine (I) at amino acid position 163 to be replaced by a threonine (T). 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