rs2037100

Variant names:

• chr11-37723171-G-A
• rs2037100

Your query was ambiguous. Multiple possible variants found:

• chr11-37723171-G-A
• chr11-37723171-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 0.106 in 151,788 control chromosomes in the GnomAD database, including 964 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 0.11 (964 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0910
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.141 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: 0.106 AC: 16018 AN: 151668 Hom.: 962 Cov.: 32

Gnomad AFR AF: 0.145

Gnomad AMI AF: 0.105

Gnomad AMR AF: 0.0948

Gnomad ASJ AF: 0.109

Gnomad EAS AF: 0.00194

Gnomad SAS AF: 0.0296

Gnomad FIN AF: 0.0746

Gnomad MID AF: 0.0994

Gnomad NFE AF: 0.102

Gnomad OTH AF: 0.103

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

GnomAD4 genome AF: 0.106 AC: 16019 AN: 151788 Hom.: 964 Cov.: 32 AF XY: 0.105 AC XY: 7777 AN XY: 74180

African (AFR) AF: 0.144 AC: 5985 AN: 41430

American (AMR) AF: 0.0946 AC: 1440 AN: 15216

Ashkenazi Jewish (ASJ) AF: 0.109 AC: 379 AN: 3464

East Asian (EAS) AF: 0.00194 AC: 10 AN: 5142

South Asian (SAS) AF: 0.0294 AC: 142 AN: 4822

European-Finnish (FIN) AF: 0.0746 AC: 791 AN: 10602

Middle Eastern (MID) AF: 0.107 AC: 31 AN: 290

European-Non Finnish (NFE) AF: 0.102 AC: 6930 AN: 67806

Other (OTH) AF: 0.102 AC: 216 AN: 2108

Alfa AF: 0.0276 Hom.: 15

Bravo AF: 0.109

Asia WGS AF: 0.0240 AC: 86 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.18
DANN	Benign	0.25
PhyloP100		-0.091

Splicing

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

Other links and lift over

dbSNP: rs2037100; hg19: chr11-37744721;