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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.779

Gnomad4 AMR AF: 0.688

Gnomad4 ASJ AF: 0.666

Gnomad4 EAS AF: 0.862

Gnomad4 SAS AF: 0.758

Gnomad4 FIN AF: 0.715

Gnomad4 NFE AF: 0.680

Gnomad4 OTH AF: 0.713

Alfa AF: 0.693 Hom.: 17674

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs871846; hg19: chr7-68389303;