5-30832796-A-G

Position:

• chr5-30832796-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.843 in 152,158 control chromosomes in the GnomAD database, including 54,234 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 0.84 (54234 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.481

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.951 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.843 AC: 128142 AN: 152040 Hom.: 54177 Cov.: 32

Gnomad AFR AF: 0.877

Gnomad AMI AF: 0.742

Gnomad AMR AF: 0.847

Gnomad ASJ AF: 0.855

Gnomad EAS AF: 0.973

Gnomad SAS AF: 0.907

Gnomad FIN AF: 0.758

Gnomad MID AF: 0.886

Gnomad NFE AF: 0.820

Gnomad OTH AF: 0.846

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.843 AC: 128258 AN: 152158 Hom.: 54234 Cov.: 32 AF XY: 0.843 AC XY: 62739 AN XY: 74380

Gnomad4 AFR AF: 0.877

Gnomad4 AMR AF: 0.847

Gnomad4 ASJ AF: 0.855

Gnomad4 EAS AF: 0.973

Gnomad4 SAS AF: 0.907

Gnomad4 FIN AF: 0.758

Gnomad4 NFE AF: 0.820

Gnomad4 OTH AF: 0.848

Alfa AF: 0.823 Hom.: 8199

Bravo AF: 0.853

Asia WGS AF: 0.940 AC: 3266 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.99
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10940923; hg19: chr5-30832903;