rs2138140

Variant names:

• chr2-136353359-C-A
• rs2138140

Your query was ambiguous. Multiple possible variants found:

• chr2-136353359-C-A
• chr2-136353359-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 0.116 in 152,086 control chromosomes in the GnomAD database, including 1,882 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 0.12 (1882 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.411
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.273 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.116 AC: 17638 AN: 151968 Hom.: 1876 Cov.: 31

Gnomad AFR AF: 0.278

Gnomad AMI AF: 0.00330

Gnomad AMR AF: 0.126

Gnomad ASJ AF: 0.0619

Gnomad EAS AF: 0.104

Gnomad SAS AF: 0.0576

Gnomad FIN AF: 0.0407

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0368

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.116 AC: 17661 AN: 152086 Hom.: 1882 Cov.: 31 AF XY: 0.115 AC XY: 8548 AN XY: 74350

African (AFR) AF: 0.278 AC: 11509 AN: 41438

American (AMR) AF: 0.127 AC: 1933 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.0619 AC: 215 AN: 3472

East Asian (EAS) AF: 0.104 AC: 536 AN: 5164

South Asian (SAS) AF: 0.0570 AC: 275 AN: 4824

European-Finnish (FIN) AF: 0.0407 AC: 431 AN: 10602

Middle Eastern (MID) AF: 0.102 AC: 30 AN: 294

European-Non Finnish (NFE) AF: 0.0368 AC: 2500 AN: 68004

Other (OTH) AF: 0.108 AC: 229 AN: 2114

Alfa AF: 0.0416 Hom.: 90

Bravo AF: 0.133

Asia WGS AF: 0.0930 AC: 322 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.88
DANN	Benign	0.44
PhyloP100		-0.41

Splicing

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

Other links and lift over

dbSNP: rs2138140; hg19: chr2-137110929;