rs1547668

Variant names:

• chr6-33807669-A-G
• rs1547668

Your query was ambiguous. Multiple possible variants found:

• chr6-33807669-A-G
• chr6-33807669-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 0.812 in 152,190 control chromosomes in the GnomAD database, including 50,361 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 0.81 (50361 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.437

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.63).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.952 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: 0.812 AC: 123436 AN: 152072 Hom.: 50323 Cov.: 33

Gnomad AFR AF: 0.768

Gnomad AMI AF: 0.803

Gnomad AMR AF: 0.860

Gnomad ASJ AF: 0.823

Gnomad EAS AF: 0.975

Gnomad SAS AF: 0.928

Gnomad FIN AF: 0.861

Gnomad MID AF: 0.847

Gnomad NFE AF: 0.798

Gnomad OTH AF: 0.809

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

GnomAD4 genome AF: 0.812 AC: 123530 AN: 152190 Hom.: 50361 Cov.: 33 AF XY: 0.819 AC XY: 60923 AN XY: 74422

Gnomad4 AFR AF: 0.768

Gnomad4 AMR AF: 0.860

Gnomad4 ASJ AF: 0.823

Gnomad4 EAS AF: 0.975

Gnomad4 SAS AF: 0.929

Gnomad4 FIN AF: 0.861

Gnomad4 NFE AF: 0.798

Gnomad4 OTH AF: 0.812

Alfa AF: 0.810 Hom.: 58456

Bravo AF: 0.809

Asia WGS AF: 0.930 AC: 3236 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.63
CADD	Benign	16
DANN	Benign	0.86

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1547668; hg19: chr6-33775446;