17-61420691-A-G

Variant names:

• chr17-61420691-A-G
• rs7214743

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 0.707 in 151,022 control chromosomes in the GnomAD database, including 38,042 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 (38042 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.713
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.787 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: 0.707 AC: 106656 AN: 150904 Hom.: 37992 Cov.: 27

Gnomad AFR AF: 0.794

Gnomad AMI AF: 0.681

Gnomad AMR AF: 0.661

Gnomad ASJ AF: 0.704

Gnomad EAS AF: 0.688

Gnomad SAS AF: 0.627

Gnomad FIN AF: 0.737

Gnomad MID AF: 0.672

Gnomad NFE AF: 0.668

Gnomad OTH AF: 0.679

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

GnomAD4 genome AF: 0.707 AC: 106767 AN: 151022 Hom.: 38042 Cov.: 27 AF XY: 0.710 AC XY: 52275 AN XY: 73664

African (AFR) AF: 0.795 AC: 32712 AN: 41168

American (AMR) AF: 0.662 AC: 10053 AN: 15184

Ashkenazi Jewish (ASJ) AF: 0.704 AC: 2444 AN: 3470

East Asian (EAS) AF: 0.689 AC: 3489 AN: 5066

South Asian (SAS) AF: 0.626 AC: 2986 AN: 4768

European-Finnish (FIN) AF: 0.737 AC: 7569 AN: 10276

Middle Eastern (MID) AF: 0.675 AC: 197 AN: 292

European-Non Finnish (NFE) AF: 0.668 AC: 45285 AN: 67804

Other (OTH) AF: 0.678 AC: 1414 AN: 2086

Alfa AF: 0.695 Hom.: 4539

Bravo AF: 0.706

Asia WGS AF: 0.656 AC: 2285 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.6
DANN	Benign	0.40
PhyloP100		-0.71

Splicing

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

Other links and lift over

dbSNP: rs7214743; hg19: chr17-59498052;