rs7272911

Variant names:

• chr20-37317836-G-A
• rs7272911

Your query was ambiguous. Multiple possible variants found:

• chr20-37317836-G-A
• chr20-37317836-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 0.327 in 152,024 control chromosomes in the GnomAD database, including 8,754 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 0.33 (8754 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.134
• Publications: 5 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 (AFR) allele frequency at 95% confidence interval = 0.451 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: 0.327 AC: 49646 AN: 151904 Hom.: 8741 Cov.: 32

Gnomad AFR AF: 0.456

Gnomad AMI AF: 0.311

Gnomad AMR AF: 0.235

Gnomad ASJ AF: 0.272

Gnomad EAS AF: 0.213

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.189

Gnomad MID AF: 0.389

Gnomad NFE AF: 0.307

Gnomad OTH AF: 0.314

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

GnomAD4 genome AF: 0.327 AC: 49694 AN: 152024 Hom.: 8754 Cov.: 32 AF XY: 0.319 AC XY: 23711 AN XY: 74294

African (AFR) AF: 0.456 AC: 18920 AN: 41462

American (AMR) AF: 0.234 AC: 3575 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.272 AC: 945 AN: 3472

East Asian (EAS) AF: 0.213 AC: 1098 AN: 5154

South Asian (SAS) AF: 0.256 AC: 1235 AN: 4816

European-Finnish (FIN) AF: 0.189 AC: 2001 AN: 10576

Middle Eastern (MID) AF: 0.378 AC: 111 AN: 294

European-Non Finnish (NFE) AF: 0.307 AC: 20858 AN: 67960

Other (OTH) AF: 0.316 AC: 667 AN: 2110

Alfa AF: 0.311 Hom.: 19814

Bravo AF: 0.334

Asia WGS AF: 0.268 AC: 935 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	2.1
DANN	Benign	0.55
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs7272911; hg19: chr20-35946239;