rs9285235

Variant names:

• chr13-62202300-A-C
• rs9285235

Your query was ambiguous. Multiple possible variants found:

• chr13-62202300-A-C
• chr13-62202300-A-G
• chr13-62202300-A-T

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 0.497 in 151,932 control chromosomes in the GnomAD database, including 19,191 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 0.50 (19191 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.648

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.567 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: 0.498 AC: 75553 AN: 151814 Hom.: 19183 Cov.: 33

Gnomad AFR AF: 0.416

Gnomad AMI AF: 0.256

Gnomad AMR AF: 0.517

Gnomad ASJ AF: 0.520

Gnomad EAS AF: 0.439

Gnomad SAS AF: 0.387

Gnomad FIN AF: 0.398

Gnomad MID AF: 0.570

Gnomad NFE AF: 0.572

Gnomad OTH AF: 0.517

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

GnomAD4 genome AF: 0.497 AC: 75579 AN: 151932 Hom.: 19191 Cov.: 33 AF XY: 0.489 AC XY: 36310 AN XY: 74254

Gnomad4 AFR AF: 0.416

Gnomad4 AMR AF: 0.516

Gnomad4 ASJ AF: 0.520

Gnomad4 EAS AF: 0.438

Gnomad4 SAS AF: 0.388

Gnomad4 FIN AF: 0.398

Gnomad4 NFE AF: 0.572

Gnomad4 OTH AF: 0.517

Alfa AF: 0.385 Hom.: 1031

Bravo AF: 0.502

Asia WGS AF: 0.441 AC: 1533 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	6.0
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9285235; hg19: chr13-62776433;