17-39911790-T-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_001165958.2(GSDMB):​c.407+536A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.6 in 151,922 control chromosomes in the GnomAD database, including 28,691 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.60 ( 28691 hom., cov: 31)

Consequence

GSDMB
NM_001165958.2 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.205
Variant links:
Genes affected
GSDMB (HGNC:23690): (gasdermin B) This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 2016]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.76).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.79 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
GSDMBNM_001165958.2 linkc.407+536A>G intron_variant Intron 3 of 10 ENST00000418519.6 NP_001159430.1 Q8TAX9-4

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
GSDMBENST00000418519.6 linkc.407+536A>G intron_variant Intron 3 of 10 5 NM_001165958.2 ENSP00000415049.1 Q8TAX9-4

Frequencies

GnomAD3 genomes
AF:
0.600
AC:
91119
AN:
151804
Hom.:
28648
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.797
Gnomad AMI
AF:
0.328
Gnomad AMR
AF:
0.593
Gnomad ASJ
AF:
0.563
Gnomad EAS
AF:
0.730
Gnomad SAS
AF:
0.578
Gnomad FIN
AF:
0.440
Gnomad MID
AF:
0.642
Gnomad NFE
AF:
0.504
Gnomad OTH
AF:
0.600
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.600
AC:
91209
AN:
151922
Hom.:
28691
Cov.:
31
AF XY:
0.599
AC XY:
44447
AN XY:
74216
show subpopulations
Gnomad4 AFR
AF:
0.797
Gnomad4 AMR
AF:
0.592
Gnomad4 ASJ
AF:
0.563
Gnomad4 EAS
AF:
0.730
Gnomad4 SAS
AF:
0.578
Gnomad4 FIN
AF:
0.440
Gnomad4 NFE
AF:
0.504
Gnomad4 OTH
AF:
0.602
Alfa
AF:
0.574
Hom.:
5403
Bravo
AF:
0.628
Asia WGS
AF:
0.626
AC:
2180
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.76
CADD
Benign
7.1
DANN
Benign
0.88

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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: rs869402; hg19: chr17-38068043; API