chr11-44330844-G-A

Variant names:

• chr11-44330844-G-A
• rs903514

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 0.361 in 151,968 control chromosomes in the GnomAD database, including 10,612 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 0.36 (10612 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0900
• Publications: 4 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 (AMR) allele frequency at 95% confidence interval = 0.497 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: 0.361 AC: 54851 AN: 151848 Hom.: 10615 Cov.: 31

Gnomad AFR AF: 0.225

Gnomad AMI AF: 0.359

Gnomad AMR AF: 0.506

Gnomad ASJ AF: 0.382

Gnomad EAS AF: 0.301

Gnomad SAS AF: 0.327

Gnomad FIN AF: 0.396

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.411

Gnomad OTH AF: 0.388

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

GnomAD4 genome AF: 0.361 AC: 54875 AN: 151968 Hom.: 10612 Cov.: 31 AF XY: 0.361 AC XY: 26809 AN XY: 74250

African (AFR) AF: 0.225 AC: 9330 AN: 41444

American (AMR) AF: 0.506 AC: 7730 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.382 AC: 1326 AN: 3468

East Asian (EAS) AF: 0.302 AC: 1561 AN: 5168

South Asian (SAS) AF: 0.328 AC: 1575 AN: 4800

European-Finnish (FIN) AF: 0.396 AC: 4185 AN: 10566

Middle Eastern (MID) AF: 0.405 AC: 119 AN: 294

European-Non Finnish (NFE) AF: 0.411 AC: 27914 AN: 67950

Other (OTH) AF: 0.384 AC: 808 AN: 2104

Alfa AF: 0.397 Hom.: 18827

Bravo AF: 0.370

Asia WGS AF: 0.313 AC: 1092 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.71
DANN	Benign	0.58
PhyloP100		-0.090

Splicing

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

Other links and lift over

dbSNP: rs903514; hg19: chr11-44352394;