chr7-22761181-G-A

Variant names:

• chr7-22761181-G-A
• rs10229457

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.444 in 152,060 control chromosomes in the GnomAD database, including 18,178 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 0.44 (18178 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.720

ACMG classification

Verdict is Benign. Variant got -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 = 0.917 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: 0.444 AC: 67451 AN: 151942 Hom.: 18137 Cov.: 32

Gnomad AFR AF: 0.654

Gnomad AMI AF: 0.262

Gnomad AMR AF: 0.548

Gnomad ASJ AF: 0.501

Gnomad EAS AF: 0.939

Gnomad SAS AF: 0.622

Gnomad FIN AF: 0.211

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.277

Gnomad OTH AF: 0.473

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

GnomAD4 genome AF: 0.444 AC: 67551 AN: 152060 Hom.: 18178 Cov.: 32 AF XY: 0.451 AC XY: 33489 AN XY: 74330

Gnomad4 AFR AF: 0.654

Gnomad4 AMR AF: 0.549

Gnomad4 ASJ AF: 0.501

Gnomad4 EAS AF: 0.939

Gnomad4 SAS AF: 0.622

Gnomad4 FIN AF: 0.211

Gnomad4 NFE AF: 0.277

Gnomad4 OTH AF: 0.479

Alfa AF: 0.339 Hom.: 5697

Bravo AF: 0.478

Asia WGS AF: 0.778 AC: 2701 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	7.1
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10229457; hg19: chr7-22800800;