rs1441762

Variant names:

• chr8-20007176-G-A
• rs1441762

Your query was ambiguous. Multiple possible variants found:

• chr8-20007176-G-A
• chr8-20007176-G-C

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 0.229 in 151,856 control chromosomes in the GnomAD database, including 4,214 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 0.23 (4214 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.141
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.267 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: 0.230 AC: 34837 AN: 151738 Hom.: 4215 Cov.: 31

Gnomad AFR AF: 0.147

Gnomad AMI AF: 0.390

Gnomad AMR AF: 0.232

Gnomad ASJ AF: 0.338

Gnomad EAS AF: 0.206

Gnomad SAS AF: 0.230

Gnomad FIN AF: 0.249

Gnomad MID AF: 0.288

Gnomad NFE AF: 0.270

Gnomad OTH AF: 0.235

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

GnomAD4 genome AF: 0.229 AC: 34829 AN: 151856 Hom.: 4214 Cov.: 31 AF XY: 0.229 AC XY: 16971 AN XY: 74192

African (AFR) AF: 0.146 AC: 6068 AN: 41420

American (AMR) AF: 0.232 AC: 3541 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.338 AC: 1173 AN: 3466

East Asian (EAS) AF: 0.206 AC: 1063 AN: 5168

South Asian (SAS) AF: 0.230 AC: 1105 AN: 4798

European-Finnish (FIN) AF: 0.249 AC: 2613 AN: 10506

Middle Eastern (MID) AF: 0.276 AC: 81 AN: 294

European-Non Finnish (NFE) AF: 0.270 AC: 18332 AN: 67910

Other (OTH) AF: 0.236 AC: 497 AN: 2110

Alfa AF: 0.219 Hom.: 2471

Bravo AF: 0.223

Asia WGS AF: 0.233 AC: 809 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.65
DANN	Benign	0.70
PhyloP100		-0.14

Splicing

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

Other links and lift over

dbSNP: rs1441762; hg19: chr8-19864687;