rs7027203

Variant names:

• chr9-93800281-A-C
• rs7027203

Your query was ambiguous. Multiple possible variants found:

• chr9-93800281-A-C
• chr9-93800281-A-G

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 0.352 in 152,016 control chromosomes in the GnomAD database, including 9,706 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 0.35 (9706 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.229
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.362 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: 0.353 AC: 53552 AN: 151898 Hom.: 9702 Cov.: 32

Gnomad AFR AF: 0.347

Gnomad AMI AF: 0.303

Gnomad AMR AF: 0.329

Gnomad ASJ AF: 0.286

Gnomad EAS AF: 0.160

Gnomad SAS AF: 0.287

Gnomad FIN AF: 0.476

Gnomad MID AF: 0.266

Gnomad NFE AF: 0.366

Gnomad OTH AF: 0.333

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

GnomAD4 genome AF: 0.352 AC: 53573 AN: 152016 Hom.: 9706 Cov.: 32 AF XY: 0.353 AC XY: 26266 AN XY: 74308

African (AFR) AF: 0.347 AC: 14382 AN: 41454

American (AMR) AF: 0.330 AC: 5039 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.286 AC: 993 AN: 3472

East Asian (EAS) AF: 0.160 AC: 828 AN: 5176

South Asian (SAS) AF: 0.286 AC: 1378 AN: 4820

European-Finnish (FIN) AF: 0.476 AC: 5031 AN: 10562

Middle Eastern (MID) AF: 0.279 AC: 82 AN: 294

European-Non Finnish (NFE) AF: 0.366 AC: 24873 AN: 67936

Other (OTH) AF: 0.329 AC: 691 AN: 2102

Alfa AF: 0.355 Hom.: 17429

Bravo AF: 0.342

Asia WGS AF: 0.212 AC: 737 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	7.1
DANN	Benign	0.52
PhyloP100		0.23

Splicing

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

Other links and lift over

dbSNP: rs7027203; hg19: chr9-96562563;