17-7071647-A-G

Variant names:

• chr17-7071647-A-G
• rs7218942

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 0.955 in 152,172 control chromosomes in the GnomAD database, including 69,534 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 0.95 (69534 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.164
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.984 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: 0.955 AC: 145138 AN: 152054 Hom.: 69480 Cov.: 30

Gnomad AFR AF: 0.901

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.949

Gnomad ASJ AF: 0.986

Gnomad EAS AF: 0.795

Gnomad SAS AF: 0.974

Gnomad FIN AF: 0.990

Gnomad MID AF: 0.997

Gnomad NFE AF: 0.991

Gnomad OTH AF: 0.956

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

GnomAD4 genome AF: 0.955 AC: 145252 AN: 152172 Hom.: 69534 Cov.: 30 AF XY: 0.954 AC XY: 70987 AN XY: 74392

African (AFR) AF: 0.902 AC: 37402 AN: 41482

American (AMR) AF: 0.949 AC: 14497 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.986 AC: 3425 AN: 3472

East Asian (EAS) AF: 0.795 AC: 4117 AN: 5176

South Asian (SAS) AF: 0.975 AC: 4688 AN: 4808

European-Finnish (FIN) AF: 0.990 AC: 10502 AN: 10610

Middle Eastern (MID) AF: 0.997 AC: 293 AN: 294

European-Non Finnish (NFE) AF: 0.991 AC: 67404 AN: 68032

Other (OTH) AF: 0.955 AC: 2012 AN: 2106

Alfa AF: 0.949 Hom.: 29270

Bravo AF: 0.948

Asia WGS AF: 0.896 AC: 3117 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	6.7
DANN	Benign	0.81
PhyloP100		0.16

Splicing

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

Other links and lift over

dbSNP: rs7218942; hg19: chr17-6974966;