rs871846

Positions:

• 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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;