rs917815

Variant names:

• chr7-21054970-G-A
• rs917815

Your query was ambiguous. Multiple possible variants found:

• chr7-21054970-G-A
• chr7-21054970-G-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 0.592 in 151,994 control chromosomes in the GnomAD database, including 26,782 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 0.59 (26782 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0560
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.653 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: 0.592 AC: 89939 AN: 151876 Hom.: 26775 Cov.: 32

Gnomad AFR AF: 0.540

Gnomad AMI AF: 0.572

Gnomad AMR AF: 0.664

Gnomad ASJ AF: 0.617

Gnomad EAS AF: 0.576

Gnomad SAS AF: 0.549

Gnomad FIN AF: 0.616

Gnomad MID AF: 0.639

Gnomad NFE AF: 0.607

Gnomad OTH AF: 0.608

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

GnomAD4 genome AF: 0.592 AC: 89983 AN: 151994 Hom.: 26782 Cov.: 32 AF XY: 0.593 AC XY: 44024 AN XY: 74286

African (AFR) AF: 0.539 AC: 22353 AN: 41436

American (AMR) AF: 0.664 AC: 10157 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.617 AC: 2137 AN: 3464

East Asian (EAS) AF: 0.575 AC: 2973 AN: 5170

South Asian (SAS) AF: 0.549 AC: 2648 AN: 4822

European-Finnish (FIN) AF: 0.616 AC: 6495 AN: 10544

Middle Eastern (MID) AF: 0.626 AC: 184 AN: 294

European-Non Finnish (NFE) AF: 0.607 AC: 41245 AN: 67962

Other (OTH) AF: 0.604 AC: 1273 AN: 2106

Alfa AF: 0.602 Hom.: 32580

Bravo AF: 0.596

Asia WGS AF: 0.551 AC: 1914 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.93
DANN	Benign	0.51
PhyloP100		0.056

Splicing

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

Other links and lift over

dbSNP: rs917815; hg19: chr7-21094589;