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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.490 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

Gnomad4 AFR AF: 0.556

Gnomad4 AMR AF: 0.405

Gnomad4 ASJ AF: 0.440

Gnomad4 EAS AF: 0.459

Gnomad4 SAS AF: 0.614

Gnomad4 FIN AF: 0.521

Gnomad4 NFE AF: 0.460

Gnomad4 OTH AF: 0.482

Alfa AF: 0.430 Hom.: 5085

Bravo AF: 0.479

Asia WGS AF: 0.577 AC: 2008 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7000897; hg19: chr8-18315721;