chr7-36152090-G-A

Variant names:

• chr7-36152090-G-A
• rs4302748

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 0.19 in 151,492 control chromosomes in the GnomAD database, including 2,895 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 0.19 (2895 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.208
• Publications: 15 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.223 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: 0.190 AC: 28686 AN: 151374 Hom.: 2884 Cov.: 30

Gnomad AFR AF: 0.154

Gnomad AMI AF: 0.249

Gnomad AMR AF: 0.229

Gnomad ASJ AF: 0.314

Gnomad EAS AF: 0.0923

Gnomad SAS AF: 0.219

Gnomad FIN AF: 0.217

Gnomad MID AF: 0.255

Gnomad NFE AF: 0.195

Gnomad OTH AF: 0.215

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

GnomAD4 genome AF: 0.190 AC: 28724 AN: 151492 Hom.: 2895 Cov.: 30 AF XY: 0.191 AC XY: 14139 AN XY: 73994

African (AFR) AF: 0.154 AC: 6356 AN: 41290

American (AMR) AF: 0.230 AC: 3497 AN: 15222

Ashkenazi Jewish (ASJ) AF: 0.314 AC: 1090 AN: 3470

East Asian (EAS) AF: 0.0922 AC: 475 AN: 5154

South Asian (SAS) AF: 0.218 AC: 1047 AN: 4806

European-Finnish (FIN) AF: 0.217 AC: 2264 AN: 10410

Middle Eastern (MID) AF: 0.257 AC: 75 AN: 292

European-Non Finnish (NFE) AF: 0.195 AC: 13243 AN: 67834

Other (OTH) AF: 0.214 AC: 450 AN: 2104

Alfa AF: 0.194 Hom.: 9771

Bravo AF: 0.185

Asia WGS AF: 0.160 AC: 556 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	7.0
DANN	Benign	0.84
PhyloP100		0.21

Splicing

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

Other links and lift over

dbSNP: rs4302748; hg19: chr7-36191699;