rs437302

Variant names:

• chr20-32810562-G-A
• rs437302

Your query was ambiguous. Multiple possible variants found:

• chr20-32810562-G-A
• chr20-32810562-G-C

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 0.0613 in 152,236 control chromosomes in the GnomAD database, including 393 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 0.061 (393 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0904 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: 0.0613 AC: 9330 AN: 152118 Hom.: 392 Cov.: 32

Gnomad AFR AF: 0.0161

Gnomad AMI AF: 0.0186

Gnomad AMR AF: 0.0650

Gnomad ASJ AF: 0.0850

Gnomad EAS AF: 0.000770

Gnomad SAS AF: 0.0646

Gnomad FIN AF: 0.0553

Gnomad MID AF: 0.149

Gnomad NFE AF: 0.0923

Gnomad OTH AF: 0.0617

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

GnomAD4 genome AF: 0.0613 AC: 9330 AN: 152236 Hom.: 393 Cov.: 32 AF XY: 0.0599 AC XY: 4459 AN XY: 74420

African (AFR) AF: 0.0161 AC: 667 AN: 41538

American (AMR) AF: 0.0649 AC: 992 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.0850 AC: 295 AN: 3472

East Asian (EAS) AF: 0.000772 AC: 4 AN: 5180

South Asian (SAS) AF: 0.0651 AC: 314 AN: 4824

European-Finnish (FIN) AF: 0.0553 AC: 586 AN: 10602

Middle Eastern (MID) AF: 0.160 AC: 47 AN: 294

European-Non Finnish (NFE) AF: 0.0923 AC: 6279 AN: 68014

Other (OTH) AF: 0.0610 AC: 129 AN: 2114

Alfa AF: 0.0703 Hom.: 623

Bravo AF: 0.0592

Asia WGS AF: 0.0250 AC: 88 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.25
DANN	Benign	0.44
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs437302; hg19: chr20-31398368;