rs17194885

Variant names:

• chr20-37439987-A-C
• rs17194885

Your query was ambiguous. Multiple possible variants found:

• chr20-37439987-A-C
• chr20-37439987-A-G

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 0.0715 in 151,986 control chromosomes in the GnomAD database, including 685 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 0.071 (685 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.388
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.258 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: 0.0715 AC: 10859 AN: 151868 Hom.: 686 Cov.: 32

Gnomad AFR AF: 0.0888

Gnomad AMI AF: 0.0582

Gnomad AMR AF: 0.177

Gnomad ASJ AF: 0.0251

Gnomad EAS AF: 0.271

Gnomad SAS AF: 0.0634

Gnomad FIN AF: 0.0430

Gnomad MID AF: 0.0348

Gnomad NFE AF: 0.0300

Gnomad OTH AF: 0.0675

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

GnomAD4 genome AF: 0.0715 AC: 10866 AN: 151986 Hom.: 685 Cov.: 32 AF XY: 0.0748 AC XY: 5557 AN XY: 74284

African (AFR) AF: 0.0887 AC: 3679 AN: 41454

American (AMR) AF: 0.177 AC: 2708 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.0251 AC: 87 AN: 3470

East Asian (EAS) AF: 0.270 AC: 1383 AN: 5122

South Asian (SAS) AF: 0.0635 AC: 306 AN: 4820

European-Finnish (FIN) AF: 0.0430 AC: 455 AN: 10576

Middle Eastern (MID) AF: 0.0374 AC: 11 AN: 294

European-Non Finnish (NFE) AF: 0.0301 AC: 2042 AN: 67950

Other (OTH) AF: 0.0673 AC: 142 AN: 2110

Alfa AF: 0.0503 Hom.: 1091

Bravo AF: 0.0861

Asia WGS AF: 0.190 AC: 661 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.32
DANN	Benign	0.80
PhyloP100		-0.39

Splicing

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

Other links and lift over

dbSNP: rs17194885; hg19: chr20-36068389;