17-74272069-A-G

Variant names:

• chr17-74272069-A-G
• rs7219585

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 0.876 in 151,544 control chromosomes in the GnomAD database, including 58,184 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 0.88 (58184 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.122

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.975 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: 0.876 AC: 132587 AN: 151426 Hom.: 58147 Cov.: 26

Gnomad AFR AF: 0.878

Gnomad AMI AF: 0.902

Gnomad AMR AF: 0.848

Gnomad ASJ AF: 0.850

Gnomad EAS AF: 0.998

Gnomad SAS AF: 0.931

Gnomad FIN AF: 0.890

Gnomad MID AF: 0.924

Gnomad NFE AF: 0.865

Gnomad OTH AF: 0.874

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

GnomAD4 genome AF: 0.876 AC: 132679 AN: 151544 Hom.: 58184 Cov.: 26 AF XY: 0.878 AC XY: 64915 AN XY: 73974

Gnomad4 AFR AF: 0.878

Gnomad4 AMR AF: 0.848

Gnomad4 ASJ AF: 0.850

Gnomad4 EAS AF: 0.998

Gnomad4 SAS AF: 0.931

Gnomad4 FIN AF: 0.890

Gnomad4 NFE AF: 0.865

Gnomad4 OTH AF: 0.875

Alfa AF: 0.872 Hom.: 86178

Bravo AF: 0.872

Asia WGS AF: 0.963 AC: 3348 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	6.0
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7219585; hg19: chr17-72268208;