2-102718527-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032718.5(MFSD9):c.1318G>A(p.Gly440Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000403 in 1,613,310 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032718.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152134Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000844 AC: 21AN: 248792Hom.: 0 AF XY: 0.0000815 AC XY: 11AN XY: 134922
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461058Hom.: 0 Cov.: 34 AF XY: 0.0000303 AC XY: 22AN XY: 726832
GnomAD4 genome AF: 0.000138 AC: 21AN: 152252Hom.: 0 Cov.: 33 AF XY: 0.000202 AC XY: 15AN XY: 74438
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1318G>A (p.G440S) alteration is located in exon 6 (coding exon 6) of the MFSD9 gene. This alteration results from a G to A substitution at nucleotide position 1318, causing the glycine (G) at amino acid position 440 to be replaced by a serine (S). 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