rs1605026

Variant names:

• chr11-4528669-G-A
• rs1605026

Your query was ambiguous. Multiple possible variants found:

• chr11-4528669-G-A
• chr11-4528669-G-C
• chr11-4528669-G-T

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 0.32 in 151,948 control chromosomes in the GnomAD database, including 8,045 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 0.32 (8045 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.27

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.411 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: 0.320 AC: 48652 AN: 151830 Hom.: 8042 Cov.: 32

Gnomad AFR AF: 0.244

Gnomad AMI AF: 0.392

Gnomad AMR AF: 0.254

Gnomad ASJ AF: 0.355

Gnomad EAS AF: 0.323

Gnomad SAS AF: 0.426

Gnomad FIN AF: 0.371

Gnomad MID AF: 0.342

Gnomad NFE AF: 0.363

Gnomad OTH AF: 0.332

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

GnomAD4 genome AF: 0.320 AC: 48682 AN: 151948 Hom.: 8045 Cov.: 32 AF XY: 0.321 AC XY: 23800 AN XY: 74254

African (AFR) AF: 0.244 AC: 10110 AN: 41432

American (AMR) AF: 0.254 AC: 3878 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.355 AC: 1230 AN: 3468

East Asian (EAS) AF: 0.323 AC: 1667 AN: 5158

South Asian (SAS) AF: 0.426 AC: 2054 AN: 4820

European-Finnish (FIN) AF: 0.371 AC: 3915 AN: 10542

Middle Eastern (MID) AF: 0.347 AC: 102 AN: 294

European-Non Finnish (NFE) AF: 0.363 AC: 24666 AN: 67958

Other (OTH) AF: 0.334 AC: 706 AN: 2112

Alfa AF: 0.304 Hom.: 2396

Bravo AF: 0.303

Asia WGS AF: 0.359 AC: 1246 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.35
DANN	Benign	0.33
PhyloP100		-1.3

Splicing

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

Publications

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Other links and lift over

dbSNP: rs1605026; hg19: chr11-4549899;