rs1449811

Variant names:

• chr8-83067392-A-C
• rs1449811

Your query was ambiguous. Multiple possible variants found:

• chr8-83067392-A-C
• chr8-83067392-A-T

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 0.894 in 152,222 control chromosomes in the GnomAD database, including 60,917 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 0.89 (60917 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.51

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.11).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.899 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: 0.894 AC: 135978 AN: 152104 Hom.: 60872 Cov.: 32

Gnomad AFR AF: 0.907

Gnomad AMI AF: 0.843

Gnomad AMR AF: 0.877

Gnomad ASJ AF: 0.867

Gnomad EAS AF: 0.844

Gnomad SAS AF: 0.856

Gnomad FIN AF: 0.935

Gnomad MID AF: 0.899

Gnomad NFE AF: 0.892

Gnomad OTH AF: 0.888

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

GnomAD4 genome AF: 0.894 AC: 136079 AN: 152222 Hom.: 60917 Cov.: 32 AF XY: 0.894 AC XY: 66557 AN XY: 74426

Gnomad4 AFR AF: 0.907

Gnomad4 AMR AF: 0.877

Gnomad4 ASJ AF: 0.867

Gnomad4 EAS AF: 0.843

Gnomad4 SAS AF: 0.857

Gnomad4 FIN AF: 0.935

Gnomad4 NFE AF: 0.892

Gnomad4 OTH AF: 0.888

Alfa AF: 0.890 Hom.: 27418

Bravo AF: 0.890

Asia WGS AF: 0.870 AC: 3025 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.42
DANN	Benign	0.24

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1449811; hg19: chr8-83979627;