GeneBe

rs58338887

Positions:

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_178171.5(GSDMA):​c.558+24_558+37delACACACACACACAC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000249 in 1,203,354 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 0)
Exomes 𝑓: 0.0000025 ( 0 hom. )

Consequence

GSDMA
NM_178171.5 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.334
Variant links:
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]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
GSDMANM_178171.5 linkuse as main transcriptc.558+24_558+37delACACACACACACAC intron_variant ENST00000301659.9 NP_835465.2 Q96QA5
GSDMAXM_006721832.4 linkuse as main transcriptc.558+24_558+37delACACACACACACAC intron_variant XP_006721895.1 Q96QA5
GSDMAXM_017024502.3 linkuse as main transcriptc.558+24_558+37delACACACACACACAC intron_variant XP_016879991.1
GSDMAXM_011524651.4 linkuse as main transcriptc.132+24_132+37delACACACACACACAC intron_variant XP_011522953.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
GSDMAENST00000301659.9 linkuse as main transcriptc.558+24_558+37delACACACACACACAC intron_variant 1 NM_178171.5 ENSP00000301659.4 Q96QA5
GSDMAENST00000635792.1 linkuse as main transcriptc.558+24_558+37delACACACACACACAC intron_variant 5 ENSP00000490739.1 Q96QA5

Frequencies

GnomAD3 genomes
Cov.:
0
GnomAD4 exome
AF:
0.00000249
AC:
3
AN:
1203354
Hom.:
0
AF XY:
0.00000171
AC XY:
1
AN XY:
586096
show subpopulations
Gnomad4 AFR exome
AF:
0.0000389
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00000208
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs58338887; hg19: chr17-38126911; API