rs11208285

Variant names:

• chr1-63755972-T-A
• rs11208285

Your query was ambiguous. Multiple possible variants found:

• chr1-63755972-T-A
• chr1-63755972-T-C
• chr1-63755972-T-G

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 0.639 in 151,944 control chromosomes in the GnomAD database, including 32,803 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 0.64 (32803 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.423
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.7).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.771 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: 0.639 AC: 97055 AN: 151828 Hom.: 32789 Cov.: 30

Gnomad AFR AF: 0.395

Gnomad AMI AF: 0.799

Gnomad AMR AF: 0.740

Gnomad ASJ AF: 0.699

Gnomad EAS AF: 0.792

Gnomad SAS AF: 0.634

Gnomad FIN AF: 0.747

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.731

Gnomad OTH AF: 0.674

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

GnomAD4 genome AF: 0.639 AC: 97101 AN: 151944 Hom.: 32803 Cov.: 30 AF XY: 0.643 AC XY: 47777 AN XY: 74288

African (AFR) AF: 0.395 AC: 16363 AN: 41402

American (AMR) AF: 0.741 AC: 11307 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.699 AC: 2423 AN: 3468

East Asian (EAS) AF: 0.792 AC: 4072 AN: 5144

South Asian (SAS) AF: 0.633 AC: 3054 AN: 4824

European-Finnish (FIN) AF: 0.747 AC: 7882 AN: 10556

Middle Eastern (MID) AF: 0.694 AC: 204 AN: 294

European-Non Finnish (NFE) AF: 0.731 AC: 49664 AN: 67976

Other (OTH) AF: 0.666 AC: 1403 AN: 2106

Alfa AF: 0.668 Hom.: 4210

Bravo AF: 0.633

Asia WGS AF: 0.674 AC: 2345 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.70
CADD	Benign	15
DANN	Benign	0.90
PhyloP100		0.42

Splicing

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

Other links and lift over

dbSNP: rs11208285; hg19: chr1-64221643; COSMIC: COSV59949212;