rs571411

Variant names:

• chr13-34328955-G-A
• rs571411

Your query was ambiguous. Multiple possible variants found:

• chr13-34328955-G-A
• chr13-34328955-G-C
• chr13-34328955-G-T

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 0.938 in 152,270 control chromosomes in the GnomAD database, including 67,172 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 0.94 (67172 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.946
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.97 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: 0.938 AC: 142671 AN: 152152 Hom.: 67133 Cov.: 32

Gnomad AFR AF: 0.855

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.971

Gnomad ASJ AF: 0.975

Gnomad EAS AF: 0.946

Gnomad SAS AF: 0.953

Gnomad FIN AF: 0.931

Gnomad MID AF: 0.975

Gnomad NFE AF: 0.977

Gnomad OTH AF: 0.952

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

GnomAD4 genome AF: 0.938 AC: 142767 AN: 152270 Hom.: 67172 Cov.: 32 AF XY: 0.937 AC XY: 69749 AN XY: 74460

African (AFR) AF: 0.855 AC: 35507 AN: 41540

American (AMR) AF: 0.971 AC: 14849 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.975 AC: 3382 AN: 3470

East Asian (EAS) AF: 0.946 AC: 4901 AN: 5180

South Asian (SAS) AF: 0.953 AC: 4600 AN: 4826

European-Finnish (FIN) AF: 0.931 AC: 9871 AN: 10606

Middle Eastern (MID) AF: 0.973 AC: 286 AN: 294

European-Non Finnish (NFE) AF: 0.977 AC: 66454 AN: 68040

Other (OTH) AF: 0.948 AC: 2005 AN: 2116

Alfa AF: 0.963 Hom.: 183553

Bravo AF: 0.937

Asia WGS AF: 0.910 AC: 3165 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.13
DANN	Benign	0.23
PhyloP100		-0.95

Splicing

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

Other links and lift over

dbSNP: rs571411; hg19: chr13-34903092;