rs2243211

Variant names:

• chr5-132665730-C-A
• rs2243211

Your query was ambiguous. Multiple possible variants found:

• chr5-132665730-C-A
• chr5-132665730-C-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 0.0919 in 152,242 control chromosomes in the GnomAD database, including 742 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 0.092 (742 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.264
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.124 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: 0.0918 AC: 13972 AN: 152124 Hom.: 742 Cov.: 33

Gnomad AFR AF: 0.120

Gnomad AMI AF: 0.0439

Gnomad AMR AF: 0.111

Gnomad ASJ AF: 0.113

Gnomad EAS AF: 0.0352

Gnomad SAS AF: 0.133

Gnomad FIN AF: 0.0512

Gnomad MID AF: 0.120

Gnomad NFE AF: 0.0770

Gnomad OTH AF: 0.0999

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

GnomAD4 genome AF: 0.0919 AC: 13987 AN: 152242 Hom.: 742 Cov.: 33 AF XY: 0.0921 AC XY: 6852 AN XY: 74424

African (AFR) AF: 0.121 AC: 5012 AN: 41542

American (AMR) AF: 0.111 AC: 1698 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.113 AC: 391 AN: 3470

East Asian (EAS) AF: 0.0355 AC: 184 AN: 5184

South Asian (SAS) AF: 0.133 AC: 639 AN: 4816

European-Finnish (FIN) AF: 0.0512 AC: 543 AN: 10606

Middle Eastern (MID) AF: 0.105 AC: 31 AN: 294

European-Non Finnish (NFE) AF: 0.0771 AC: 5242 AN: 68004

Other (OTH) AF: 0.0979 AC: 207 AN: 2114

Alfa AF: 0.0624 Hom.: 116

Bravo AF: 0.0964

Asia WGS AF: 0.0950 AC: 329 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.65
DANN	Benign	0.55
PhyloP100		-0.26

Splicing

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

Other links and lift over

dbSNP: rs2243211; hg19: chr5-132001422;