rs7461733

Variant names:

• chr8-143146311-A-G
• rs7461733

Your query was ambiguous. Multiple possible variants found:

• chr8-143146311-A-G
• chr8-143146311-A-T

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 0.883 in 152,154 control chromosomes in the GnomAD database, including 60,442 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 0.88 (60442 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0390
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.953 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: 0.884 AC: 134328 AN: 152036 Hom.: 60414 Cov.: 31

Gnomad AFR AF: 0.694

Gnomad AMI AF: 0.987

Gnomad AMR AF: 0.941

Gnomad ASJ AF: 0.958

Gnomad EAS AF: 0.931

Gnomad SAS AF: 0.898

Gnomad FIN AF: 0.989

Gnomad MID AF: 0.924

Gnomad NFE AF: 0.959

Gnomad OTH AF: 0.902

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

GnomAD4 genome AF: 0.883 AC: 134417 AN: 152154 Hom.: 60442 Cov.: 31 AF XY: 0.886 AC XY: 65915 AN XY: 74390

African (AFR) AF: 0.694 AC: 28762 AN: 41444

American (AMR) AF: 0.941 AC: 14397 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.958 AC: 3325 AN: 3470

East Asian (EAS) AF: 0.932 AC: 4816 AN: 5170

South Asian (SAS) AF: 0.897 AC: 4320 AN: 4814

European-Finnish (FIN) AF: 0.989 AC: 10502 AN: 10616

Middle Eastern (MID) AF: 0.918 AC: 270 AN: 294

European-Non Finnish (NFE) AF: 0.959 AC: 65215 AN: 68018

Other (OTH) AF: 0.903 AC: 1910 AN: 2114

Alfa AF: 0.936 Hom.: 73368

Bravo AF: 0.872

Asia WGS AF: 0.902 AC: 3132 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	4.0
DANN	Benign	0.77
PhyloP100		0.039

Splicing

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

Other links and lift over

dbSNP: rs7461733; hg19: chr8-144227728;