rs7837045

Variant names:

• chr8-141530825-A-C
• rs7837045

Your query was ambiguous. Multiple possible variants found:

• chr8-141530825-A-C
• chr8-141530825-A-G
• chr8-141530825-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 0.662 in 152,036 control chromosomes in the GnomAD database, including 35,230 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 0.66 (35230 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.499
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.776 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: 0.663 AC: 100653 AN: 151918 Hom.: 35229 Cov.: 33

Gnomad AFR AF: 0.437

Gnomad AMI AF: 0.703

Gnomad AMR AF: 0.651

Gnomad ASJ AF: 0.772

Gnomad EAS AF: 0.475

Gnomad SAS AF: 0.711

Gnomad FIN AF: 0.820

Gnomad MID AF: 0.741

Gnomad NFE AF: 0.781

Gnomad OTH AF: 0.694

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

GnomAD4 genome AF: 0.662 AC: 100694 AN: 152036 Hom.: 35230 Cov.: 33 AF XY: 0.664 AC XY: 49327 AN XY: 74336

African (AFR) AF: 0.437 AC: 18097 AN: 41428

American (AMR) AF: 0.650 AC: 9932 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.772 AC: 2682 AN: 3472

East Asian (EAS) AF: 0.476 AC: 2445 AN: 5140

South Asian (SAS) AF: 0.710 AC: 3419 AN: 4816

European-Finnish (FIN) AF: 0.820 AC: 8689 AN: 10596

Middle Eastern (MID) AF: 0.738 AC: 217 AN: 294

European-Non Finnish (NFE) AF: 0.781 AC: 53111 AN: 67992

Other (OTH) AF: 0.690 AC: 1461 AN: 2116

Alfa AF: 0.732 Hom.: 93920

Bravo AF: 0.638

Asia WGS AF: 0.555 AC: 1929 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.9
DANN	Benign	0.53
PhyloP100		-0.50

Splicing

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

Other links and lift over

dbSNP: rs7837045; hg19: chr8-142540925;