rs59118283

Variant names:

• chr8-143559981-GAGGGCAGGGC-G
• NM_024736.7:c.410+23_410+32delAGGGCAGGGC

Your query was ambiguous. Multiple possible variants found:

• chr8-143559981-GAGGGCAGGGC-G
• chr8-143559981-GAGGGCAGGGC-GAGGGC
• chr8-143559981-GAGGGCAGGGC-GAGGGCAGGGCAGGGC
• chr8-143559981-GAGGGCAGGGC-GAGGGCAGGGCAGGGCAGGGC
• chr8-143559981-GAGGGCAGGGC-GAGGGCAGGGCAGGGCAGGGCAGGGC
• chr8-143559981-GAGGGCAGGGC-GAGGGCAGGGCAGGGCAGGGCAGGGCAGGGC
• chr8-143559981-GAGGGCAGGGC-GAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGC
• chr8-143559981-GAGGGCAGGGC-GAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGC
• chr8-143559981-GAGGGCAGGGC-GAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGC
• chr8-143559981-GAGGGCAGGGC-GAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGC
• chr8-143559981-GAGGGCAGGGC-GAGGGCAGGGCAGGGCAGGGCTGGGCAGGGCAGGGC

Variant summary

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

The NM_024736.7(GSDMD):​c.410+23_410+32delAGGGCAGGGC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000278 in 1,436,510 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: 0.0000028 (0 hom.)
• Consequence: GSDMD NM_024736.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.478

Genes affected

GSDMD (HGNC:25697): (gasdermin D) Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]

ACMG classification

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 rank	MANE	Protein	UniProt
GSDMD	NM_024736.7	c.410+23_410+32delAGGGCAGGGC		intron_variant	Intron 3 of 10	ENST00000262580.9	NP_079012.3
GSDMD	NM_001166237.1	c.410+23_410+32delAGGGCAGGGC		intron_variant	Intron 6 of 13		NP_001159709.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
GSDMD	ENST00000262580.9	c.410+23_410+32delAGGGCAGGGC		intron_variant	Intron 3 of 10	1	NM_024736.7	ENSP00000262580.4

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome AF: 0.00000278 AC: 4 AN: 1436510 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 715472

Gnomad4 AFR exome AF: 0.0000305

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: 0.00000183

Gnomad4 OTH exome AF: 0.0000168

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr8-144642151;