rs742614

Variant names:

• chr20-33894826-A-G
• rs742614

Your query was ambiguous. Multiple possible variants found:

• chr20-33894826-A-G
• chr20-33894826-A-T

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 0.559 in 152,008 control chromosomes in the GnomAD database, including 24,319 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 0.56 (24319 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.993
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.657 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: 0.559 AC: 84910 AN: 151890 Hom.: 24296 Cov.: 31

Gnomad AFR AF: 0.663

Gnomad AMI AF: 0.567

Gnomad AMR AF: 0.428

Gnomad ASJ AF: 0.656

Gnomad EAS AF: 0.592

Gnomad SAS AF: 0.476

Gnomad FIN AF: 0.414

Gnomad MID AF: 0.634

Gnomad NFE AF: 0.544

Gnomad OTH AF: 0.591

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

GnomAD4 genome AF: 0.559 AC: 84976 AN: 152008 Hom.: 24319 Cov.: 31 AF XY: 0.551 AC XY: 40978 AN XY: 74320

African (AFR) AF: 0.664 AC: 27510 AN: 41456

American (AMR) AF: 0.427 AC: 6519 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.656 AC: 2276 AN: 3472

East Asian (EAS) AF: 0.591 AC: 3061 AN: 5176

South Asian (SAS) AF: 0.477 AC: 2294 AN: 4808

European-Finnish (FIN) AF: 0.414 AC: 4376 AN: 10562

Middle Eastern (MID) AF: 0.634 AC: 185 AN: 292

European-Non Finnish (NFE) AF: 0.544 AC: 36995 AN: 67952

Other (OTH) AF: 0.590 AC: 1244 AN: 2108

Alfa AF: 0.551 Hom.: 44512

Bravo AF: 0.567

Asia WGS AF: 0.487 AC: 1692 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.50
DANN	Benign	0.49
PhyloP100		-0.99

Splicing

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

Other links and lift over

dbSNP: rs742614; hg19: chr20-32482632;