rs8179387

Variant names:

• chr1-21963663-A-G
• rs8179387

Your query was ambiguous. Multiple possible variants found:

• chr1-21963663-A-G
• chr1-21963663-A-T

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 0.214 in 151,926 control chromosomes in the GnomAD database, including 4,207 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 0.21 (4207 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.74
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.394 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: 0.214 AC: 32438 AN: 151808 Hom.: 4193 Cov.: 31

Gnomad AFR AF: 0.0930

Gnomad AMI AF: 0.371

Gnomad AMR AF: 0.355

Gnomad ASJ AF: 0.210

Gnomad EAS AF: 0.409

Gnomad SAS AF: 0.233

Gnomad FIN AF: 0.236

Gnomad MID AF: 0.143

Gnomad NFE AF: 0.234

Gnomad OTH AF: 0.218

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

GnomAD4 genome AF: 0.214 AC: 32470 AN: 151926 Hom.: 4207 Cov.: 31 AF XY: 0.219 AC XY: 16237 AN XY: 74204

African (AFR) AF: 0.0934 AC: 3877 AN: 41504

American (AMR) AF: 0.356 AC: 5433 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.210 AC: 728 AN: 3464

East Asian (EAS) AF: 0.408 AC: 2084 AN: 5102

South Asian (SAS) AF: 0.233 AC: 1124 AN: 4820

European-Finnish (FIN) AF: 0.236 AC: 2482 AN: 10538

Middle Eastern (MID) AF: 0.130 AC: 38 AN: 292

European-Non Finnish (NFE) AF: 0.234 AC: 15910 AN: 67944

Other (OTH) AF: 0.216 AC: 456 AN: 2110

Alfa AF: 0.231 Hom.: 5286

Bravo AF: 0.216

Asia WGS AF: 0.272 AC: 947 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.062
DANN	Benign	0.28
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs8179387; hg19: chr1-22290156;