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. The variant received -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
• Publications: 8 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.496 AC: 20562 AN: 41454

American (AMR) AF: 0.480 AC: 7350 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.559 AC: 1941 AN: 3472

East Asian (EAS) AF: 0.403 AC: 2083 AN: 5164

South Asian (SAS) AF: 0.413 AC: 1988 AN: 4814

European-Finnish (FIN) AF: 0.336 AC: 3560 AN: 10582

Middle Eastern (MID) AF: 0.639 AC: 188 AN: 294

European-Non Finnish (NFE) AF: 0.477 AC: 32404 AN: 67948

Other (OTH) AF: 0.539 AC: 1138 AN: 2112

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.93
DANN	Benign	0.65
PhyloP100		-0.11

Splicing

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

Other links and lift over

dbSNP: rs1230067; hg19: chr17-43465737;