rs2037348

Variant names:

• chr15-78361221-G-A
• rs2037348

Your query was ambiguous. Multiple possible variants found:

• chr15-78361221-G-A
• chr15-78361221-G-C
• chr15-78361221-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 0.779 in 152,064 control chromosomes in the GnomAD database, including 46,453 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 0.78 (46453 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.109
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.919 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: 0.779 AC: 118368 AN: 151946 Hom.: 46416 Cov.: 31

Gnomad AFR AF: 0.695

Gnomad AMI AF: 0.891

Gnomad AMR AF: 0.834

Gnomad ASJ AF: 0.827

Gnomad EAS AF: 0.912

Gnomad SAS AF: 0.941

Gnomad FIN AF: 0.763

Gnomad MID AF: 0.861

Gnomad NFE AF: 0.793

Gnomad OTH AF: 0.815

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

GnomAD4 genome AF: 0.779 AC: 118462 AN: 152064 Hom.: 46453 Cov.: 31 AF XY: 0.784 AC XY: 58238 AN XY: 74320

African (AFR) AF: 0.696 AC: 28828 AN: 41436

American (AMR) AF: 0.834 AC: 12755 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.827 AC: 2872 AN: 3472

East Asian (EAS) AF: 0.912 AC: 4714 AN: 5170

South Asian (SAS) AF: 0.941 AC: 4538 AN: 4820

European-Finnish (FIN) AF: 0.763 AC: 8060 AN: 10560

Middle Eastern (MID) AF: 0.857 AC: 252 AN: 294

European-Non Finnish (NFE) AF: 0.793 AC: 53911 AN: 68002

Other (OTH) AF: 0.816 AC: 1721 AN: 2108

Alfa AF: 0.792 Hom.: 94213

Bravo AF: 0.775

Asia WGS AF: 0.896 AC: 3111 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.19
DANN	Benign	0.33
PhyloP100		-0.11

Splicing

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

Other links and lift over

dbSNP: rs2037348; hg19: chr15-78653563;