1-45824578-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015112.3(MAST2):c.323C>T(p.Ser108Leu) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000883 in 1,584,982 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015112.3 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAST2 | ENST00000361297.7 | c.323C>T | p.Ser108Leu | missense_variant, splice_region_variant | Exon 2 of 29 | 1 | NM_015112.3 | ENSP00000354671.2 | ||
MAST2 | ENST00000470809.1 | n.292C>T | splice_region_variant, non_coding_transcript_exon_variant | Exon 2 of 5 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152156Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000838 AC: 12AN: 1432826Hom.: 1 Cov.: 30 AF XY: 0.0000141 AC XY: 10AN XY: 709700
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.323C>T (p.S108L) alteration is located in exon 2 (coding exon 2) of the MAST2 gene. This alteration results from a C to T substitution at nucleotide position 323, causing the serine (S) at amino acid position 108 to be replaced by a leucine (L). 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