rs9571178

Variant names:

• chr13-64362111-G-A
• rs9571178

Your query was ambiguous. Multiple possible variants found:

• chr13-64362111-G-A
• chr13-64362111-G-T

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 0.429 in 151,612 control chromosomes in the GnomAD database, including 14,399 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 (14399 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.229

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.67).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.514 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: 0.429 AC: 65011 AN: 151494 Hom.: 14376 Cov.: 31

Gnomad AFR AF: 0.412

Gnomad AMI AF: 0.543

Gnomad AMR AF: 0.523

Gnomad ASJ AF: 0.411

Gnomad EAS AF: 0.237

Gnomad SAS AF: 0.376

Gnomad FIN AF: 0.308

Gnomad MID AF: 0.342

Gnomad NFE AF: 0.455

Gnomad OTH AF: 0.432

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

GnomAD4 genome AF: 0.429 AC: 65088 AN: 151612 Hom.: 14399 Cov.: 31 AF XY: 0.425 AC XY: 31441 AN XY: 74062

Gnomad4 AFR AF: 0.412

Gnomad4 AMR AF: 0.523

Gnomad4 ASJ AF: 0.411

Gnomad4 EAS AF: 0.237

Gnomad4 SAS AF: 0.377

Gnomad4 FIN AF: 0.308

Gnomad4 NFE AF: 0.455

Gnomad4 OTH AF: 0.435

Alfa AF: 0.449 Hom.: 31071

Bravo AF: 0.445

Asia WGS AF: 0.359 AC: 1247 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.67
CADD	Benign	2.1
DANN	Benign	0.95

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9571178; hg19: chr13-64936243;