1-45997795-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015112.3(MAST2):c.664C>T(p.Arg222Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000049 in 1,613,762 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015112.3 missense
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.664C>T | p.Arg222Cys | missense_variant | Exon 6 of 29 | 1 | NM_015112.3 | ENSP00000354671.2 | ||
MAST2 | ENST00000674079.1 | c.214C>T | p.Arg72Cys | missense_variant | Exon 3 of 27 | ENSP00000501318.1 | ||||
MAST2 | ENST00000372008.6 | c.319C>T | p.Arg107Cys | missense_variant | Exon 4 of 20 | 5 | ENSP00000361078.2 | |||
MAST2 | ENST00000482881.1 | n.164C>T | non_coding_transcript_exon_variant | Exon 2 of 6 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152054Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000561 AC: 14AN: 249506Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135358
GnomAD4 exome AF: 0.0000513 AC: 75AN: 1461708Hom.: 1 Cov.: 30 AF XY: 0.0000591 AC XY: 43AN XY: 727170
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152054Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74254
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.664C>T (p.R222C) alteration is located in exon 6 (coding exon 6) of the MAST2 gene. This alteration results from a C to T substitution at nucleotide position 664, causing the arginine (R) at amino acid position 222 to be replaced by a cysteine (C). 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