17-39970658-AAC-A
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Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_178171.5(GSDMA):c.558+36_558+37del variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00666 in 1,340,454 control chromosomes in the GnomAD database, including 2 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0017 ( 1 hom., cov: 0)
Exomes 𝑓: 0.0073 ( 1 hom. )
Consequence
GSDMA
NM_178171.5 intron
NM_178171.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.00200
Genes affected
GSDMA (HGNC:13311): (gasdermin A) Predicted to enable phosphatidylinositol-4,5-bisphosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylserine binding activity. Involved in apoptotic process. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
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.558+36_558+37del | intron_variant | ENST00000301659.9 | |||
GSDMA | XM_006721832.4 | c.558+36_558+37del | intron_variant | ||||
GSDMA | XM_011524651.4 | c.132+36_132+37del | intron_variant | ||||
GSDMA | XM_017024502.3 | c.558+36_558+37del | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GSDMA | ENST00000301659.9 | c.558+36_558+37del | intron_variant | 1 | NM_178171.5 | P1 | |||
GSDMA | ENST00000635792.1 | c.558+36_558+37del | intron_variant | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00171 AC: 257AN: 150576Hom.: 1 Cov.: 0
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GnomAD3 exomes AF: 0.0113 AC: 587AN: 51756Hom.: 0 AF XY: 0.0118 AC XY: 298AN XY: 25320
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GnomAD4 exome AF: 0.00729 AC: 8669AN: 1189756Hom.: 1 AF XY: 0.00741 AC XY: 4293AN XY: 579402
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GnomAD4 genome AF: 0.00170 AC: 256AN: 150698Hom.: 1 Cov.: 0 AF XY: 0.00159 AC XY: 117AN XY: 73554
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ClinVar
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at