rs8083967

Variant names:

• chr18-30531342-G-A
• rs8083967

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.309 in 151,990 control chromosomes in the GnomAD database, including 7,933 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 0.31 (7933 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.124
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.379 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: 0.309 AC: 46989 AN: 151872 Hom.: 7935 Cov.: 32

Gnomad AFR AF: 0.207

Gnomad AMI AF: 0.469

Gnomad AMR AF: 0.226

Gnomad ASJ AF: 0.282

Gnomad EAS AF: 0.159

Gnomad SAS AF: 0.311

Gnomad FIN AF: 0.430

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.383

Gnomad OTH AF: 0.298

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

GnomAD4 genome AF: 0.309 AC: 46999 AN: 151990 Hom.: 7933 Cov.: 32 AF XY: 0.308 AC XY: 22910 AN XY: 74280

African (AFR) AF: 0.207 AC: 8596 AN: 41468

American (AMR) AF: 0.226 AC: 3444 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.282 AC: 976 AN: 3460

East Asian (EAS) AF: 0.159 AC: 824 AN: 5174

South Asian (SAS) AF: 0.311 AC: 1497 AN: 4816

European-Finnish (FIN) AF: 0.430 AC: 4529 AN: 10542

Middle Eastern (MID) AF: 0.231 AC: 68 AN: 294

European-Non Finnish (NFE) AF: 0.383 AC: 26016 AN: 67944

Other (OTH) AF: 0.295 AC: 623 AN: 2112

Alfa AF: 0.347 Hom.: 10903

Bravo AF: 0.286

Asia WGS AF: 0.228 AC: 793 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	2.2
DANN	Benign	0.56
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs8083967; hg19: chr18-28111308;