rs1230067

Variant names:

• chr17-45388371-G-A
• rs1230067

Your query was ambiguous. Multiple possible variants found:

• chr17-45388371-G-A
• chr17-45388371-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 0.472 in 152,046 control chromosomes in the GnomAD database, including 17,092 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 0.47 (17092 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.114

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.49 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: 0.472 AC: 71692 AN: 151928 Hom.: 17092 Cov.: 32

Gnomad AFR AF: 0.496

Gnomad AMI AF: 0.553

Gnomad AMR AF: 0.481

Gnomad ASJ AF: 0.559

Gnomad EAS AF: 0.404

Gnomad SAS AF: 0.413

Gnomad FIN AF: 0.336

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.477

Gnomad OTH AF: 0.543

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

GnomAD4 genome AF: 0.472 AC: 71716 AN: 152046 Hom.: 17092 Cov.: 32 AF XY: 0.466 AC XY: 34604 AN XY: 74322

Gnomad4 AFR AF: 0.496

Gnomad4 AMR AF: 0.480

Gnomad4 ASJ AF: 0.559

Gnomad4 EAS AF: 0.403

Gnomad4 SAS AF: 0.413

Gnomad4 FIN AF: 0.336

Gnomad4 NFE AF: 0.477

Gnomad4 OTH AF: 0.539

Alfa AF: 0.309 Hom.: 721

Bravo AF: 0.487

Asia WGS AF: 0.433 AC: 1507 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.93
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1230067; hg19: chr17-43465737;