rs9373026

Variant names:

• chr6-132570046-C-G
• rs9373026

Your query was ambiguous. Multiple possible variants found:

• chr6-132570046-C-G
• chr6-132570046-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 0.172 in 151,968 control chromosomes in the GnomAD database, including 2,516 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 (2516 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.63
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.356 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: 0.172 AC: 26112 AN: 151850 Hom.: 2517 Cov.: 32

Gnomad AFR AF: 0.117

Gnomad AMI AF: 0.252

Gnomad AMR AF: 0.194

Gnomad ASJ AF: 0.0997

Gnomad EAS AF: 0.370

Gnomad SAS AF: 0.177

Gnomad FIN AF: 0.169

Gnomad MID AF: 0.130

Gnomad NFE AF: 0.189

Gnomad OTH AF: 0.171

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

GnomAD4 genome AF: 0.172 AC: 26135 AN: 151968 Hom.: 2516 Cov.: 32 AF XY: 0.172 AC XY: 12766 AN XY: 74278

African (AFR) AF: 0.117 AC: 4841 AN: 41444

American (AMR) AF: 0.194 AC: 2960 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.0997 AC: 346 AN: 3472

East Asian (EAS) AF: 0.370 AC: 1912 AN: 5168

South Asian (SAS) AF: 0.177 AC: 853 AN: 4808

European-Finnish (FIN) AF: 0.169 AC: 1782 AN: 10534

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

European-Non Finnish (NFE) AF: 0.189 AC: 12810 AN: 67944

Other (OTH) AF: 0.173 AC: 365 AN: 2110

Alfa AF: 0.186 Hom.: 386

Bravo AF: 0.174

Asia WGS AF: 0.277 AC: 963 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	5.9
DANN	Benign	0.65
PhyloP100		-1.6
PromoterAI		-0.0048	Neutral

Splicing

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

Other links and lift over

dbSNP: rs9373026; hg19: chr6-132891185;