rs2044537

Positions:

• chr2-222656259-A-G
• chr2-222656259-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 0.821 in 578,190 control chromosomes in the GnomAD database, including 198,579 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 0.85 (56330 hom., cov: 36)
  • Exomes 𝑓: 0.81 (142249 hom.)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.77

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.959 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.853 AC: 129831 AN: 152198 Hom.: 56284 Cov.: 36

Gnomad AFR AF: 0.967

Gnomad AMI AF: 0.878

Gnomad AMR AF: 0.763

Gnomad ASJ AF: 0.859

Gnomad EAS AF: 0.440

Gnomad SAS AF: 0.776

Gnomad FIN AF: 0.786

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.850

Gnomad OTH AF: 0.861

GnomAD4 exome AF: 0.809 AC: 344593 AN: 425874 Hom.: 142249 Cov.: 3 AF XY: 0.809 AC XY: 181855 AN XY: 224674

Gnomad4 AFR exome AF: 0.963

Gnomad4 AMR exome AF: 0.735

Gnomad4 ASJ exome AF: 0.864

Gnomad4 EAS exome AF: 0.408

Gnomad4 SAS exome AF: 0.793

Gnomad4 FIN exome AF: 0.784

Gnomad4 NFE exome AF: 0.849

Gnomad4 OTH exome AF: 0.825

GnomAD4 genome AF: 0.853 AC: 129923 AN: 152316 Hom.: 56330 Cov.: 36 AF XY: 0.844 AC XY: 62866 AN XY: 74488

Gnomad4 AFR AF: 0.967

Gnomad4 AMR AF: 0.762

Gnomad4 ASJ AF: 0.859

Gnomad4 EAS AF: 0.440

Gnomad4 SAS AF: 0.777

Gnomad4 FIN AF: 0.786

Gnomad4 NFE AF: 0.850

Gnomad4 OTH AF: 0.856

Alfa AF: 0.817 Hom.: 3538

Bravo AF: 0.856

Asia WGS AF: 0.640 AC: 2227 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	0.0030
DANN	Benign	0.52

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs2044537; hg19: chr2-223520978; COSMIC: COSV56050190;