rs17361077

Variant names:

• chr7-75809445-C-G
• rs17361077

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 0.165 in 151,966 control chromosomes in the GnomAD database, including 2,592 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 0.17 (2592 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.657
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.233 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: 0.165 AC: 25087 AN: 151848 Hom.: 2589 Cov.: 31

Gnomad AFR AF: 0.0535

Gnomad AMI AF: 0.274

Gnomad AMR AF: 0.158

Gnomad ASJ AF: 0.229

Gnomad EAS AF: 0.00463

Gnomad SAS AF: 0.161

Gnomad FIN AF: 0.201

Gnomad MID AF: 0.229

Gnomad NFE AF: 0.236

Gnomad OTH AF: 0.186

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

GnomAD4 genome AF: 0.165 AC: 25083 AN: 151966 Hom.: 2592 Cov.: 31 AF XY: 0.163 AC XY: 12105 AN XY: 74274

African (AFR) AF: 0.0534 AC: 2214 AN: 41474

American (AMR) AF: 0.158 AC: 2404 AN: 15228

Ashkenazi Jewish (ASJ) AF: 0.229 AC: 795 AN: 3466

East Asian (EAS) AF: 0.00445 AC: 23 AN: 5168

South Asian (SAS) AF: 0.161 AC: 775 AN: 4808

European-Finnish (FIN) AF: 0.201 AC: 2118 AN: 10532

Middle Eastern (MID) AF: 0.240 AC: 70 AN: 292

European-Non Finnish (NFE) AF: 0.236 AC: 16047 AN: 67984

Other (OTH) AF: 0.184 AC: 388 AN: 2106

Alfa AF: 0.198 Hom.: 404

Bravo AF: 0.157

Asia WGS AF: 0.0780 AC: 273 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.4
DANN	Benign	0.60
PhyloP100		-0.66

Splicing

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

Other links and lift over

dbSNP: rs17361077; hg19: chr7-75438763;