rs1447352

Variant names:

• chr11-92989595-G-A
• rs1447352

Your query was ambiguous. Multiple possible variants found:

• chr11-92989595-G-A
• chr11-92989595-G-C
• chr11-92989595-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 0.557 in 151,970 control chromosomes in the GnomAD database, including 23,909 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 0.56 (23909 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.331
• Publications: 33 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.675 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: 0.557 AC: 84529 AN: 151852 Hom.: 23876 Cov.: 32

Gnomad AFR AF: 0.558

Gnomad AMI AF: 0.680

Gnomad AMR AF: 0.656

Gnomad ASJ AF: 0.439

Gnomad EAS AF: 0.693

Gnomad SAS AF: 0.687

Gnomad FIN AF: 0.574

Gnomad MID AF: 0.583

Gnomad NFE AF: 0.516

Gnomad OTH AF: 0.541

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

GnomAD4 genome AF: 0.557 AC: 84625 AN: 151970 Hom.: 23909 Cov.: 32 AF XY: 0.565 AC XY: 41959 AN XY: 74254

African (AFR) AF: 0.559 AC: 23142 AN: 41434

American (AMR) AF: 0.657 AC: 10039 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.439 AC: 1524 AN: 3468

East Asian (EAS) AF: 0.694 AC: 3570 AN: 5146

South Asian (SAS) AF: 0.687 AC: 3312 AN: 4822

European-Finnish (FIN) AF: 0.574 AC: 6059 AN: 10550

Middle Eastern (MID) AF: 0.586 AC: 171 AN: 292

European-Non Finnish (NFE) AF: 0.516 AC: 35045 AN: 67950

Other (OTH) AF: 0.541 AC: 1144 AN: 2114

Alfa AF: 0.535 Hom.: 53064

Bravo AF: 0.564

Asia WGS AF: 0.650 AC: 2259 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	3.0
DANN	Benign	0.60
PhyloP100		0.33

Splicing

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

Other links and lift over

dbSNP: rs1447352; hg19: chr11-92722761; COSMIC: COSV73276624;