rs1383279

Variant names:

• chr8-49236274-A-G
• rs1383279

Your query was ambiguous. Multiple possible variants found:

• chr8-49236274-A-G
• chr8-49236274-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 0.847 in 152,134 control chromosomes in the GnomAD database, including 56,672 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 0.85 (56672 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.626

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.949 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: 0.847 AC: 128755 AN: 152016 Hom.: 56627 Cov.: 32

Gnomad AFR AF: 0.579

Gnomad AMI AF: 0.996

Gnomad AMR AF: 0.911

Gnomad ASJ AF: 0.968

Gnomad EAS AF: 0.962

Gnomad SAS AF: 0.971

Gnomad FIN AF: 0.963

Gnomad MID AF: 0.953

Gnomad NFE AF: 0.950

Gnomad OTH AF: 0.866

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

GnomAD4 genome AF: 0.847 AC: 128856 AN: 152134 Hom.: 56672 Cov.: 32 AF XY: 0.852 AC XY: 63345 AN XY: 74372

Gnomad4 AFR AF: 0.580

Gnomad4 AMR AF: 0.911

Gnomad4 ASJ AF: 0.968

Gnomad4 EAS AF: 0.962

Gnomad4 SAS AF: 0.972

Gnomad4 FIN AF: 0.963

Gnomad4 NFE AF: 0.950

Gnomad4 OTH AF: 0.868

Alfa AF: 0.881 Hom.: 7487

Bravo AF: 0.832

Asia WGS AF: 0.949 AC: 3298 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.29
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1383279; hg19: chr8-50148833;