rs2537185

Positions:

• chr7-44132637-G-A

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 0.278 in 152,104 control chromosomes in the GnomAD database, including 6,938 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 0.28 (6938 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.51

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.435 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: 0.278 AC: 42188 AN: 151986 Hom.: 6927 Cov.: 33

Gnomad AFR AF: 0.104

Gnomad AMI AF: 0.349

Gnomad AMR AF: 0.266

Gnomad ASJ AF: 0.377

Gnomad EAS AF: 0.242

Gnomad SAS AF: 0.449

Gnomad FIN AF: 0.407

Gnomad MID AF: 0.322

Gnomad NFE AF: 0.350

Gnomad OTH AF: 0.275

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

GnomAD4 genome AF: 0.278 AC: 42212 AN: 152104 Hom.: 6938 Cov.: 33 AF XY: 0.281 AC XY: 20929 AN XY: 74350

Gnomad4 AFR AF: 0.103

Gnomad4 AMR AF: 0.266

Gnomad4 ASJ AF: 0.377

Gnomad4 EAS AF: 0.242

Gnomad4 SAS AF: 0.451

Gnomad4 FIN AF: 0.407

Gnomad4 NFE AF: 0.350

Gnomad4 OTH AF: 0.277

Alfa AF: 0.301 Hom.: 1376

Bravo AF: 0.254

Asia WGS AF: 0.346 AC: 1202 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.68
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2537185; hg19: chr7-44172236;