rs2537185

Variant names:

• chr7-44132637-G-A
• rs2537185

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 0.278 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
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• 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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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

African (AFR) AF: 0.103 AC: 4291 AN: 41502

American (AMR) AF: 0.266 AC: 4070 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.377 AC: 1309 AN: 3470

East Asian (EAS) AF: 0.242 AC: 1255 AN: 5176

South Asian (SAS) AF: 0.451 AC: 2172 AN: 4816

European-Finnish (FIN) AF: 0.407 AC: 4299 AN: 10570

Middle Eastern (MID) AF: 0.318 AC: 93 AN: 292

European-Non Finnish (NFE) AF: 0.350 AC: 23822 AN: 67976

Other (OTH) AF: 0.277 AC: 583 AN: 2108

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
PhyloP100		-2.5

Splicing

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

Other links and lift over

dbSNP: rs2537185; hg19: chr7-44172236;