rs17168169

Variant names:

• chr7-97090689-C-A
• rs17168169

Your query was ambiguous. Multiple possible variants found:

• chr7-97090689-C-A
• chr7-97090689-C-G
• chr7-97090689-C-T

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 0.22 in 152,022 control chromosomes in the GnomAD database, including 4,124 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 0.22 (4124 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0170
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.418 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: 0.220 AC: 33385 AN: 151906 Hom.: 4122 Cov.: 32

Gnomad AFR AF: 0.113

Gnomad AMI AF: 0.297

Gnomad AMR AF: 0.265

Gnomad ASJ AF: 0.269

Gnomad EAS AF: 0.433

Gnomad SAS AF: 0.253

Gnomad FIN AF: 0.248

Gnomad MID AF: 0.210

Gnomad NFE AF: 0.247

Gnomad OTH AF: 0.245

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

GnomAD4 genome AF: 0.220 AC: 33395 AN: 152022 Hom.: 4124 Cov.: 32 AF XY: 0.222 AC XY: 16503 AN XY: 74298

African (AFR) AF: 0.113 AC: 4677 AN: 41474

American (AMR) AF: 0.266 AC: 4061 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.269 AC: 935 AN: 3470

East Asian (EAS) AF: 0.433 AC: 2228 AN: 5150

South Asian (SAS) AF: 0.253 AC: 1221 AN: 4818

European-Finnish (FIN) AF: 0.248 AC: 2618 AN: 10568

Middle Eastern (MID) AF: 0.192 AC: 56 AN: 292

European-Non Finnish (NFE) AF: 0.247 AC: 16803 AN: 67948

Other (OTH) AF: 0.249 AC: 525 AN: 2112

Alfa AF: 0.0989 Hom.: 152

Bravo AF: 0.218

Asia WGS AF: 0.335 AC: 1164 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	5.9
DANN	Benign	0.71
PhyloP100		-0.017

Splicing

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

Other links and lift over

dbSNP: rs17168169; hg19: chr7-96720001;