rs7217373

Variant names:

• chr17-21256718-C-G
• rs7217373

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 0.711 in 152,038 control chromosomes in the GnomAD database, including 39,165 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 0.71 (39165 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.737
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.852 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: 0.711 AC: 107965 AN: 151918 Hom.: 39125 Cov.: 31

Gnomad AFR AF: 0.859

Gnomad AMI AF: 0.830

Gnomad AMR AF: 0.580

Gnomad ASJ AF: 0.644

Gnomad EAS AF: 0.556

Gnomad SAS AF: 0.691

Gnomad FIN AF: 0.697

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.667

Gnomad OTH AF: 0.686

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

GnomAD4 genome AF: 0.711 AC: 108063 AN: 152038 Hom.: 39165 Cov.: 31 AF XY: 0.709 AC XY: 52658 AN XY: 74290

African (AFR) AF: 0.859 AC: 35663 AN: 41518

American (AMR) AF: 0.580 AC: 8839 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.644 AC: 2232 AN: 3468

East Asian (EAS) AF: 0.556 AC: 2873 AN: 5166

South Asian (SAS) AF: 0.692 AC: 3341 AN: 4826

European-Finnish (FIN) AF: 0.697 AC: 7349 AN: 10542

Middle Eastern (MID) AF: 0.690 AC: 203 AN: 294

European-Non Finnish (NFE) AF: 0.667 AC: 45356 AN: 67958

Other (OTH) AF: 0.687 AC: 1452 AN: 2114

Alfa AF: 0.696 Hom.: 4613

Bravo AF: 0.704

Asia WGS AF: 0.664 AC: 2312 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.64
DANN	Benign	0.35
PhyloP100		-0.74

Splicing

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

Other links and lift over

dbSNP: rs7217373; hg19: chr17-21160030;