4-2930939-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001146069.2(MFSD10):c.1267G>A(p.Gly423Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000616 in 1,460,650 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 (★).
Frequency
Consequence
NM_001146069.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 249006Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135242
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1460650Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726656
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1267G>A (p.G423R) alteration is located in exon 12 (coding exon 12) of the MFSD10 gene. This alteration results from a G to A substitution at nucleotide position 1267, causing the glycine (G) at amino acid position 423 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