rs735266

chr22-35372070-T-A

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 0.311 in 151,302 control chromosomes in the GnomAD database, including 7,729 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 0.31 (7727 hom., cov: 28)
  • Exomes 𝑓: 0.31 (2 hom.)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.408

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.52).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.414 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.311 AC: 46990 AN: 151114 Hom.: 7735 Cov.: 28

Gnomad AFR AF: 0.193

Gnomad AMI AF: 0.288

Gnomad AMR AF: 0.263

Gnomad ASJ AF: 0.381

Gnomad EAS AF: 0.429

Gnomad SAS AF: 0.421

Gnomad FIN AF: 0.338

Gnomad MID AF: 0.421

Gnomad NFE AF: 0.368

Gnomad OTH AF: 0.332

GnomAD4 exome AF: 0.309 AC: 21 AN: 68 Hom.: 2 AF XY: 0.300 AC XY: 15 AN XY: 50

Gnomad4 ASJ exome AF: 0.500

Gnomad4 EAS exome AF: 0.250

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.500

Gnomad4 NFE exome AF: 0.333

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome AF: 0.311 AC: 46983 AN: 151234 Hom.: 7727 Cov.: 28 AF XY: 0.310 AC XY: 22925 AN XY: 73856

Gnomad4 AFR AF: 0.192

Gnomad4 AMR AF: 0.263

Gnomad4 ASJ AF: 0.381

Gnomad4 EAS AF: 0.429

Gnomad4 SAS AF: 0.419

Gnomad4 FIN AF: 0.338

Gnomad4 NFE AF: 0.368

Gnomad4 OTH AF: 0.331

Alfa AF: 0.341 Hom.: 1182

Bravo AF: 0.301

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.52
Cadd	Benign	9.8
Dann	Benign	0.89

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs735266; hg19: chr22-35768063;