11-37417798-A-G

Variant names:

• chr11-37417798-A-G
• rs1822934

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 0.448 in 151,986 control chromosomes in the GnomAD database, including 17,729 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 0.45 (17729 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.40
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.598 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.448 AC: 68105 AN: 151868 Hom.: 17714 Cov.: 32

Gnomad AFR AF: 0.171

Gnomad AMI AF: 0.384

Gnomad AMR AF: 0.584

Gnomad ASJ AF: 0.521

Gnomad EAS AF: 0.615

Gnomad SAS AF: 0.592

Gnomad FIN AF: 0.623

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.534

Gnomad OTH AF: 0.465

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

GnomAD4 genome AF: 0.448 AC: 68141 AN: 151986 Hom.: 17729 Cov.: 32 AF XY: 0.459 AC XY: 34085 AN XY: 74298

African (AFR) AF: 0.172 AC: 7116 AN: 41492

American (AMR) AF: 0.585 AC: 8921 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.521 AC: 1808 AN: 3470

East Asian (EAS) AF: 0.616 AC: 3164 AN: 5140

South Asian (SAS) AF: 0.590 AC: 2846 AN: 4820

European-Finnish (FIN) AF: 0.623 AC: 6577 AN: 10562

Middle Eastern (MID) AF: 0.422 AC: 124 AN: 294

European-Non Finnish (NFE) AF: 0.534 AC: 36255 AN: 67938

Other (OTH) AF: 0.465 AC: 981 AN: 2108

Alfa AF: 0.509 Hom.: 87587

Bravo AF: 0.433

Asia WGS AF: 0.580 AC: 2016 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.10
DANN	Benign	0.29
PhyloP100		-2.4

Splicing

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

Other links and lift over

dbSNP: rs1822934; hg19: chr11-37439348;