rs7350230

Variant names:

• chr9-80957598-C-A
• rs7350230

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 0.434 in 152,056 control chromosomes in the GnomAD database, including 16,100 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 0.43 (16100 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.319
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.559 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: 0.434 AC: 65944 AN: 151936 Hom.: 16102 Cov.: 32

Gnomad AFR AF: 0.221

Gnomad AMI AF: 0.724

Gnomad AMR AF: 0.431

Gnomad ASJ AF: 0.454

Gnomad EAS AF: 0.239

Gnomad SAS AF: 0.332

Gnomad FIN AF: 0.549

Gnomad MID AF: 0.443

Gnomad NFE AF: 0.564

Gnomad OTH AF: 0.425

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

GnomAD4 genome AF: 0.434 AC: 65959 AN: 152056 Hom.: 16100 Cov.: 32 AF XY: 0.430 AC XY: 31928 AN XY: 74310

African (AFR) AF: 0.221 AC: 9182 AN: 41500

American (AMR) AF: 0.430 AC: 6572 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.454 AC: 1574 AN: 3470

East Asian (EAS) AF: 0.239 AC: 1234 AN: 5162

South Asian (SAS) AF: 0.334 AC: 1608 AN: 4820

European-Finnish (FIN) AF: 0.549 AC: 5785 AN: 10544

Middle Eastern (MID) AF: 0.449 AC: 132 AN: 294

European-Non Finnish (NFE) AF: 0.564 AC: 38322 AN: 67972

Other (OTH) AF: 0.423 AC: 890 AN: 2106

Alfa AF: 0.525 Hom.: 11039

Bravo AF: 0.417

Asia WGS AF: 0.293 AC: 1021 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	1.7
DANN	Benign	0.59
PhyloP100		-0.32

Splicing

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

Other links and lift over

dbSNP: rs7350230; hg19: chr9-83572513; COSMIC: COSV60366332;