4-2931840-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001146069.2(MFSD10):c.899G>A(p.Arg300His) variant causes a missense change. The variant allele was found at a frequency of 0.000357 in 1,604,430 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 (★).
Frequency
Consequence
NM_001146069.2 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 AF: 0.000289 AC: 44AN: 152124Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000383 AC: 89AN: 232278Hom.: 0 AF XY: 0.000398 AC XY: 50AN XY: 125626
GnomAD4 exome AF: 0.000364 AC: 529AN: 1452188Hom.: 0 Cov.: 34 AF XY: 0.000380 AC XY: 274AN XY: 721528
GnomAD4 genome AF: 0.000289 AC: 44AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.000296 AC XY: 22AN XY: 74424
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.899G>A (p.R300H) alteration is located in exon 7 (coding exon 7) of the MFSD10 gene. This alteration results from a G to A substitution at nucleotide position 899, causing the arginine (R) at amino acid position 300 to be replaced by a histidine (H). 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