5-66596695-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001164664.2(MAST4):c.40C>T(p.Arg14Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000816 in 1,471,484 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001164664.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAST4 | ENST00000403625.7 | c.40C>T | p.Arg14Cys | missense_variant | Exon 1 of 29 | 5 | NM_001164664.2 | ENSP00000385727.1 | ||
MAST4 | ENST00000406374.5 | c.40C>T | p.Arg14Cys | missense_variant | Exon 1 of 6 | 1 | ENSP00000385088.1 | |||
MAST4 | ENST00000406039.5 | c.40C>T | p.Arg14Cys | missense_variant | Exon 1 of 5 | 1 | ENSP00000384547.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152084Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000747 AC: 10AN: 133834Hom.: 0 AF XY: 0.0000518 AC XY: 4AN XY: 77190
GnomAD4 exome AF: 0.00000834 AC: 11AN: 1319400Hom.: 0 Cov.: 33 AF XY: 0.00000768 AC XY: 5AN XY: 651048
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152084Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.40C>T (p.R14C) alteration is located in exon 1 (coding exon 1) of the MAST4 gene. This alteration results from a C to T substitution at nucleotide position 40, causing the arginine (R) at amino acid position 14 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