8-38611785-A-G

Variant names:

• chr8-38611785-A-G
• rs7832232

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 0.438 in 151,898 control chromosomes in the GnomAD database, including 14,996 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 0.44 (14996 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.448

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.493 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.438 AC: 66426 AN: 151780 Hom.: 14985 Cov.: 32

Gnomad AFR AF: 0.340

Gnomad AMI AF: 0.533

Gnomad AMR AF: 0.394

Gnomad ASJ AF: 0.425

Gnomad EAS AF: 0.509

Gnomad SAS AF: 0.328

Gnomad FIN AF: 0.520

Gnomad MID AF: 0.347

Gnomad NFE AF: 0.497

Gnomad OTH AF: 0.421

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

GnomAD4 genome AF: 0.438 AC: 66459 AN: 151898 Hom.: 14996 Cov.: 32 AF XY: 0.436 AC XY: 32374 AN XY: 74238

Gnomad4 AFR AF: 0.340

Gnomad4 AMR AF: 0.394

Gnomad4 ASJ AF: 0.425

Gnomad4 EAS AF: 0.509

Gnomad4 SAS AF: 0.329

Gnomad4 FIN AF: 0.520

Gnomad4 NFE AF: 0.497

Gnomad4 OTH AF: 0.424

Alfa AF: 0.478 Hom.: 40577

Bravo AF: 0.424

Asia WGS AF: 0.399 AC: 1390 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	5.3
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7832232; hg19: chr8-38469303;