rs7000897

Variant names:

• chr8-18458211-G-A
• rs7000897

Your query was ambiguous. Multiple possible variants found:

• chr8-18458211-G-A
• chr8-18458211-G-C

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 0.49 in 152,048 control chromosomes in the GnomAD database, including 18,544 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 0.49 (18544 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0250
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.595 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: 0.490 AC: 74422 AN: 151930 Hom.: 18519 Cov.: 32

Gnomad AFR AF: 0.556

Gnomad AMI AF: 0.500

Gnomad AMR AF: 0.405

Gnomad ASJ AF: 0.440

Gnomad EAS AF: 0.460

Gnomad SAS AF: 0.616

Gnomad FIN AF: 0.521

Gnomad MID AF: 0.494

Gnomad NFE AF: 0.460

Gnomad OTH AF: 0.478

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

GnomAD4 genome AF: 0.490 AC: 74494 AN: 152048 Hom.: 18544 Cov.: 32 AF XY: 0.494 AC XY: 36690 AN XY: 74310

African (AFR) AF: 0.556 AC: 23081 AN: 41496

American (AMR) AF: 0.405 AC: 6174 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.440 AC: 1528 AN: 3470

East Asian (EAS) AF: 0.459 AC: 2368 AN: 5156

South Asian (SAS) AF: 0.614 AC: 2961 AN: 4826

European-Finnish (FIN) AF: 0.521 AC: 5498 AN: 10552

Middle Eastern (MID) AF: 0.497 AC: 146 AN: 294

European-Non Finnish (NFE) AF: 0.460 AC: 31267 AN: 67974

Other (OTH) AF: 0.482 AC: 1016 AN: 2110

Alfa AF: 0.438 Hom.: 6460

Bravo AF: 0.479

Asia WGS AF: 0.577 AC: 2008 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.8
DANN	Benign	0.45
PhyloP100		0.025

Splicing

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

Other links and lift over

dbSNP: rs7000897; hg19: chr8-18315721;