chr17-39975983-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_178171.5(GSDMA):c.1081G>A(p.Val361Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000125 in 1,595,606 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178171.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GSDMA | NM_178171.5 | c.1081G>A | p.Val361Met | missense_variant | 11/12 | ENST00000301659.9 | |
GSDMA | XM_006721832.4 | c.1081G>A | p.Val361Met | missense_variant | 11/12 | ||
GSDMA | XM_017024502.3 | c.1054G>A | p.Val352Met | missense_variant | 10/11 | ||
GSDMA | XM_011524651.4 | c.655G>A | p.Val219Met | missense_variant | 9/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GSDMA | ENST00000301659.9 | c.1081G>A | p.Val361Met | missense_variant | 11/12 | 1 | NM_178171.5 | P1 | |
GSDMA | ENST00000635792.1 | c.1081G>A | p.Val361Met | missense_variant | 11/12 | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000182 AC: 4AN: 219540Hom.: 0 AF XY: 0.00000845 AC XY: 1AN XY: 118312
GnomAD4 exome AF: 0.0000132 AC: 19AN: 1443432Hom.: 0 Cov.: 29 AF XY: 0.0000154 AC XY: 11AN XY: 716194
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 14, 2022 | The c.1081G>A (p.V361M) alteration is located in exon 11 (coding exon 10) of the GSDMA gene. This alteration results from a G to A substitution at nucleotide position 1081, causing the valine (V) at amino acid position 361 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