rs9965173

Variant names:

• chr18-7211757-A-G
• rs9965173

Your query was ambiguous. Multiple possible variants found:

• chr18-7211757-A-G
• chr18-7211757-A-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 0.103 in 152,292 control chromosomes in the GnomAD database, including 1,049 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 0.10 (1049 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.211
• Publications: 1 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 (EAS) allele frequency at 95% confidence interval = 0.22 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: 0.103 AC: 15707 AN: 152174 Hom.: 1045 Cov.: 33

Gnomad AFR AF: 0.0537

Gnomad AMI AF: 0.0912

Gnomad AMR AF: 0.175

Gnomad ASJ AF: 0.123

Gnomad EAS AF: 0.231

Gnomad SAS AF: 0.217

Gnomad FIN AF: 0.0869

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.101

Gnomad OTH AF: 0.106

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

GnomAD4 genome AF: 0.103 AC: 15723 AN: 152292 Hom.: 1049 Cov.: 33 AF XY: 0.106 AC XY: 7910 AN XY: 74482

African (AFR) AF: 0.0537 AC: 2232 AN: 41562

American (AMR) AF: 0.175 AC: 2678 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.123 AC: 428 AN: 3472

East Asian (EAS) AF: 0.231 AC: 1194 AN: 5174

South Asian (SAS) AF: 0.217 AC: 1047 AN: 4828

European-Finnish (FIN) AF: 0.0869 AC: 923 AN: 10618

Middle Eastern (MID) AF: 0.126 AC: 37 AN: 294

European-Non Finnish (NFE) AF: 0.101 AC: 6879 AN: 68024

Other (OTH) AF: 0.105 AC: 222 AN: 2114

Alfa AF: 0.111 Hom.: 1102

Bravo AF: 0.107

Asia WGS AF: 0.194 AC: 673 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	1.3
DANN	Benign	0.43
PhyloP100		0.21

Splicing

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

Other links and lift over

dbSNP: rs9965173; hg19: chr18-7211755;