rs7017300

Variant names:

• chr8-127513023-C-A
• rs7017300

Your query was ambiguous. Multiple possible variants found:

• chr8-127513023-C-A
• chr8-127513023-C-G

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 0.812 in 152,146 control chromosomes in the GnomAD database, including 50,549 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 0.81 (50549 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.778
• Publications: 21 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 (NFE) allele frequency at 95% confidence interval = 0.861 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.812 AC: 123466 AN: 152028 Hom.: 50526 Cov.: 32

Gnomad AFR AF: 0.706

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.840

Gnomad ASJ AF: 0.925

Gnomad EAS AF: 0.753

Gnomad SAS AF: 0.833

Gnomad FIN AF: 0.802

Gnomad MID AF: 0.921

Gnomad NFE AF: 0.867

Gnomad OTH AF: 0.852

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

GnomAD4 genome AF: 0.812 AC: 123531 AN: 152146 Hom.: 50549 Cov.: 32 AF XY: 0.811 AC XY: 60284 AN XY: 74364

African (AFR) AF: 0.706 AC: 29269 AN: 41478

American (AMR) AF: 0.839 AC: 12835 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.925 AC: 3210 AN: 3472

East Asian (EAS) AF: 0.753 AC: 3902 AN: 5184

South Asian (SAS) AF: 0.833 AC: 4019 AN: 4826

European-Finnish (FIN) AF: 0.802 AC: 8466 AN: 10560

Middle Eastern (MID) AF: 0.929 AC: 273 AN: 294

European-Non Finnish (NFE) AF: 0.867 AC: 58948 AN: 68010

Other (OTH) AF: 0.846 AC: 1785 AN: 2110

Alfa AF: 0.853 Hom.: 231657

Bravo AF: 0.807

Asia WGS AF: 0.735 AC: 2560 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	0.40
DANN	Benign	0.66
PhyloP100		-0.78

Splicing

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

Other links and lift over

dbSNP: rs7017300; hg19: chr8-128525268;