rs717698

Variant names:

• chr7-8354618-G-A
• rs717698

Your query was ambiguous. Multiple possible variants found:

• chr7-8354618-G-A
• chr7-8354618-G-C

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.612 in 152,114 control chromosomes in the GnomAD database, including 29,941 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 0.61 (29941 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.317

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.35).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.833 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: 0.612 AC: 93016 AN: 151996 Hom.: 29897 Cov.: 33

Gnomad AFR AF: 0.800

Gnomad AMI AF: 0.691

Gnomad AMR AF: 0.542

Gnomad ASJ AF: 0.641

Gnomad EAS AF: 0.853

Gnomad SAS AF: 0.635

Gnomad FIN AF: 0.418

Gnomad MID AF: 0.633

Gnomad NFE AF: 0.522

Gnomad OTH AF: 0.579

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

GnomAD4 genome AF: 0.612 AC: 93107 AN: 152114 Hom.: 29941 Cov.: 33 AF XY: 0.609 AC XY: 45267 AN XY: 74338

Gnomad4 AFR AF: 0.800

Gnomad4 AMR AF: 0.542

Gnomad4 ASJ AF: 0.641

Gnomad4 EAS AF: 0.854

Gnomad4 SAS AF: 0.634

Gnomad4 FIN AF: 0.418

Gnomad4 NFE AF: 0.522

Gnomad4 OTH AF: 0.581

Alfa AF: 0.544 Hom.: 30511

Bravo AF: 0.628

Asia WGS AF: 0.728 AC: 2531 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.35
CADD	Benign	17
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs717698; hg19: chr7-8394248;