rs575341

Variant names:

• chr11-72146329-T-C
• rs575341

Your query was ambiguous. Multiple possible variants found:

• chr11-72146329-T-C
• chr11-72146329-T-G

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 0.814 in 152,016 control chromosomes in the GnomAD database, including 51,130 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 0.81 (51130 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.284

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.879 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: 0.814 AC: 123629 AN: 151898 Hom.: 51086 Cov.: 30

Gnomad AFR AF: 0.655

Gnomad AMI AF: 0.970

Gnomad AMR AF: 0.891

Gnomad ASJ AF: 0.869

Gnomad EAS AF: 0.775

Gnomad SAS AF: 0.827

Gnomad FIN AF: 0.854

Gnomad MID AF: 0.870

Gnomad NFE AF: 0.883

Gnomad OTH AF: 0.835

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

GnomAD4 genome AF: 0.814 AC: 123724 AN: 152016 Hom.: 51130 Cov.: 30 AF XY: 0.812 AC XY: 60334 AN XY: 74292

Gnomad4 AFR AF: 0.656

Gnomad4 AMR AF: 0.892

Gnomad4 ASJ AF: 0.869

Gnomad4 EAS AF: 0.775

Gnomad4 SAS AF: 0.827

Gnomad4 FIN AF: 0.854

Gnomad4 NFE AF: 0.883

Gnomad4 OTH AF: 0.834

Alfa AF: 0.843 Hom.: 8616

Bravo AF: 0.810

Asia WGS AF: 0.777 AC: 2703 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	6.1
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs575341; hg19: chr11-71857373;