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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.395

Gnomad4 AMR AF: 0.741

Gnomad4 ASJ AF: 0.699

Gnomad4 EAS AF: 0.792

Gnomad4 SAS AF: 0.633

Gnomad4 FIN AF: 0.747

Gnomad4 NFE AF: 0.731

Gnomad4 OTH AF: 0.666

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

Splicing

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

Publications

LitVar

Other links and lift over

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