1-45997757-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_015112.3(MAST2):c.626C>T(p.Ser209Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000743 in 1,614,074 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAST2 | ENST00000361297.7 | c.626C>T | p.Ser209Phe | missense_variant | Exon 6 of 29 | 1 | NM_015112.3 | ENSP00000354671.2 | ||
MAST2 | ENST00000674079.1 | c.176C>T | p.Ser59Phe | missense_variant | Exon 3 of 27 | ENSP00000501318.1 | ||||
MAST2 | ENST00000372008.6 | c.281C>T | p.Ser94Phe | missense_variant | Exon 4 of 20 | 5 | ENSP00000361078.2 | |||
MAST2 | ENST00000482881.1 | n.126C>T | non_coding_transcript_exon_variant | Exon 2 of 6 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152240Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249560Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135396
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461834Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 727222
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152240Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.626C>T (p.S209F) 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 626, causing the serine (S) at amino acid position 209 to be replaced by a phenylalanine (F). 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