rs871846

Variant names:

• chr7-68924316-G-A
• rs871846

Your query was ambiguous. Multiple possible variants found:

• chr7-68924316-G-A
• chr7-68924316-G-C

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 0.719 in 151,664 control chromosomes in the GnomAD database, including 39,467 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 0.72 (39467 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.197
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.84 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: 0.719 AC: 108924 AN: 151544 Hom.: 39425 Cov.: 29

Gnomad AFR AF: 0.778

Gnomad AMI AF: 0.646

Gnomad AMR AF: 0.688

Gnomad ASJ AF: 0.666

Gnomad EAS AF: 0.862

Gnomad SAS AF: 0.758

Gnomad FIN AF: 0.715

Gnomad MID AF: 0.642

Gnomad NFE AF: 0.680

Gnomad OTH AF: 0.715

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

GnomAD4 genome AF: 0.719 AC: 109022 AN: 151664 Hom.: 39467 Cov.: 29 AF XY: 0.722 AC XY: 53486 AN XY: 74088

African (AFR) AF: 0.779 AC: 32172 AN: 41314

American (AMR) AF: 0.688 AC: 10478 AN: 15226

Ashkenazi Jewish (ASJ) AF: 0.666 AC: 2311 AN: 3470

East Asian (EAS) AF: 0.862 AC: 4401 AN: 5108

South Asian (SAS) AF: 0.758 AC: 3647 AN: 4812

European-Finnish (FIN) AF: 0.715 AC: 7506 AN: 10492

Middle Eastern (MID) AF: 0.653 AC: 192 AN: 294

European-Non Finnish (NFE) AF: 0.680 AC: 46226 AN: 67932

Other (OTH) AF: 0.713 AC: 1500 AN: 2104

Alfa AF: 0.691 Hom.: 23866

Bravo AF: 0.718

Asia WGS AF: 0.813 AC: 2827 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.76
DANN	Benign	0.73
PhyloP100		-0.20

Splicing

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

Other links and lift over

dbSNP: rs871846; hg19: chr7-68389303;