rs7352437

Variant names:

• chr20-6863188-T-C
• rs7352437

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 0.181 in 151,792 control chromosomes in the GnomAD database, including 5,118 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 0.18 (5118 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.168
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.471 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: 0.180 AC: 27338 AN: 151676 Hom.: 5081 Cov.: 32

Gnomad AFR AF: 0.476

Gnomad AMI AF: 0.0231

Gnomad AMR AF: 0.111

Gnomad ASJ AF: 0.0464

Gnomad EAS AF: 0.0629

Gnomad SAS AF: 0.135

Gnomad FIN AF: 0.0748

Gnomad MID AF: 0.124

Gnomad NFE AF: 0.0552

Gnomad OTH AF: 0.159

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

GnomAD4 genome AF: 0.181 AC: 27432 AN: 151792 Hom.: 5118 Cov.: 32 AF XY: 0.180 AC XY: 13354 AN XY: 74226

African (AFR) AF: 0.476 AC: 19672 AN: 41300

American (AMR) AF: 0.111 AC: 1691 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.0464 AC: 161 AN: 3468

East Asian (EAS) AF: 0.0633 AC: 326 AN: 5152

South Asian (SAS) AF: 0.136 AC: 654 AN: 4808

European-Finnish (FIN) AF: 0.0748 AC: 788 AN: 10530

Middle Eastern (MID) AF: 0.116 AC: 34 AN: 294

European-Non Finnish (NFE) AF: 0.0552 AC: 3753 AN: 67978

Other (OTH) AF: 0.158 AC: 332 AN: 2106

Alfa AF: 0.126 Hom.: 380

Bravo AF: 0.195

Asia WGS AF: 0.144 AC: 500 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	6.5
DANN	Benign	0.64
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs7352437; hg19: chr20-6843835;