rs11773271

Variant names:

• chr7-9348268-A-C
• rs11773271

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 0.426 in 151,868 control chromosomes in the GnomAD database, including 14,488 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 0.43 (14488 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.109
• Publications: 2 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 (NFE) allele frequency at 95% confidence interval = 0.49 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: 0.426 AC: 64607 AN: 151752 Hom.: 14483 Cov.: 31

Gnomad AFR AF: 0.347

Gnomad AMI AF: 0.368

Gnomad AMR AF: 0.352

Gnomad ASJ AF: 0.447

Gnomad EAS AF: 0.161

Gnomad SAS AF: 0.370

Gnomad FIN AF: 0.558

Gnomad MID AF: 0.383

Gnomad NFE AF: 0.494

Gnomad OTH AF: 0.414

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

GnomAD4 genome AF: 0.426 AC: 64630 AN: 151868 Hom.: 14488 Cov.: 31 AF XY: 0.426 AC XY: 31631 AN XY: 74224

African (AFR) AF: 0.347 AC: 14366 AN: 41460

American (AMR) AF: 0.351 AC: 5359 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.447 AC: 1552 AN: 3472

East Asian (EAS) AF: 0.162 AC: 837 AN: 5168

South Asian (SAS) AF: 0.370 AC: 1784 AN: 4816

European-Finnish (FIN) AF: 0.558 AC: 5875 AN: 10536

Middle Eastern (MID) AF: 0.371 AC: 109 AN: 294

European-Non Finnish (NFE) AF: 0.494 AC: 33549 AN: 67872

Other (OTH) AF: 0.414 AC: 871 AN: 2106

Alfa AF: 0.456 Hom.: 30501

Bravo AF: 0.402

Asia WGS AF: 0.290 AC: 1009 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	2.9
DANN	Benign	0.16
PhyloP100		0.11

Splicing

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

Other links and lift over

dbSNP: rs11773271; hg19: chr7-9387898;