rs1080327

Variant names:

• chr17-34264647-T-A
• rs1080327

Your query was ambiguous. Multiple possible variants found:

• chr17-34264647-T-A
• chr17-34264647-T-C
• chr17-34264647-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 0.335 in 152,050 control chromosomes in the GnomAD database, including 9,027 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 0.33 (9027 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.28

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.538 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: 0.335 AC: 50826 AN: 151932 Hom.: 9005 Cov.: 32

Gnomad AFR AF: 0.367

Gnomad AMI AF: 0.140

Gnomad AMR AF: 0.449

Gnomad ASJ AF: 0.284

Gnomad EAS AF: 0.554

Gnomad SAS AF: 0.344

Gnomad FIN AF: 0.343

Gnomad MID AF: 0.326

Gnomad NFE AF: 0.276

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.335 AC: 50892 AN: 152050 Hom.: 9027 Cov.: 32 AF XY: 0.341 AC XY: 25357 AN XY: 74334

Gnomad4 AFR AF: 0.367

Gnomad4 AMR AF: 0.451

Gnomad4 ASJ AF: 0.284

Gnomad4 EAS AF: 0.555

Gnomad4 SAS AF: 0.345

Gnomad4 FIN AF: 0.343

Gnomad4 NFE AF: 0.276

Gnomad4 OTH AF: 0.320

Alfa AF: 0.297 Hom.: 907

Bravo AF: 0.345

Asia WGS AF: 0.453 AC: 1571 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.65
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1080327; hg19: chr17-32591666;