rs900147

Variant names:

• chr11-13272293-G-A
• rs900147

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.62 in 152,034 control chromosomes in the GnomAD database, including 30,106 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 0.62 (30106 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.05

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.697 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: 0.620 AC: 94182 AN: 151916 Hom.: 30073 Cov.: 33

Gnomad AFR AF: 0.463

Gnomad AMI AF: 0.609

Gnomad AMR AF: 0.618

Gnomad ASJ AF: 0.661

Gnomad EAS AF: 0.537

Gnomad SAS AF: 0.634

Gnomad FIN AF: 0.723

Gnomad MID AF: 0.608

Gnomad NFE AF: 0.703

Gnomad OTH AF: 0.637

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

GnomAD4 genome AF: 0.620 AC: 94268 AN: 152034 Hom.: 30106 Cov.: 33 AF XY: 0.622 AC XY: 46255 AN XY: 74306

Gnomad4 AFR AF: 0.463

Gnomad4 AMR AF: 0.618

Gnomad4 ASJ AF: 0.661

Gnomad4 EAS AF: 0.536

Gnomad4 SAS AF: 0.637

Gnomad4 FIN AF: 0.723

Gnomad4 NFE AF: 0.703

Gnomad4 OTH AF: 0.640

Alfa AF: 0.573 Hom.: 1860

Bravo AF: 0.607

Asia WGS AF: 0.605 AC: 2104 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.79
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs900147; hg19: chr11-13293840;