chr19-54174220-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024298.5(MBOAT7):c.1243G>A(p.Val415Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000293 in 1,601,370 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V415L) has been classified as Likely benign.
Frequency
Consequence
NM_024298.5 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: 0.0000263 AC: 4AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000371 AC: 9AN: 242706Hom.: 0 AF XY: 0.0000533 AC XY: 7AN XY: 131294
GnomAD4 exome AF: 0.0000297 AC: 43AN: 1449204Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 29AN XY: 719492
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1243G>A (p.V415M) alteration is located in exon 8 (coding exon 7) of the MBOAT7 gene. This alteration results from a G to A substitution at nucleotide position 1243, causing the valine (V) at amino acid position 415 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