rs7000234

Variant names:

• chr8-80624879-G-A
• rs7000234

Your query was ambiguous. Multiple possible variants found:

• chr8-80624879-G-A
• chr8-80624879-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 0.0992 in 152,124 control chromosomes in the GnomAD database, including 1,082 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 0.099 (1082 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0730

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.196 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: 0.0989 AC: 15037 AN: 152006 Hom.: 1069 Cov.: 32

Gnomad AFR AF: 0.199

Gnomad AMI AF: 0.0648

Gnomad AMR AF: 0.0648

Gnomad ASJ AF: 0.0799

Gnomad EAS AF: 0.000577

Gnomad SAS AF: 0.0172

Gnomad FIN AF: 0.0611

Gnomad MID AF: 0.114

Gnomad NFE AF: 0.0664

Gnomad OTH AF: 0.0982

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

GnomAD4 genome AF: 0.0992 AC: 15084 AN: 152124 Hom.: 1082 Cov.: 32 AF XY: 0.0967 AC XY: 7193 AN XY: 74380

Gnomad4 AFR AF: 0.200

Gnomad4 AMR AF: 0.0645

Gnomad4 ASJ AF: 0.0799

Gnomad4 EAS AF: 0.000578

Gnomad4 SAS AF: 0.0175

Gnomad4 FIN AF: 0.0611

Gnomad4 NFE AF: 0.0663

Gnomad4 OTH AF: 0.0976

Alfa AF: 0.0708 Hom.: 233

Bravo AF: 0.103

Asia WGS AF: 0.0230 AC: 81 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	5.1
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7000234; hg19: chr8-81537114;