rs7006032

Variant names:

• chr8-139246954-C-T
• rs7006032

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 0.368 in 151,540 control chromosomes in the GnomAD database, including 11,209 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 0.37 (11209 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.459

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.467 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: 0.368 AC: 55794 AN: 151422 Hom.: 11197 Cov.: 32

Gnomad AFR AF: 0.230

Gnomad AMI AF: 0.313

Gnomad AMR AF: 0.476

Gnomad ASJ AF: 0.407

Gnomad EAS AF: 0.233

Gnomad SAS AF: 0.335

Gnomad FIN AF: 0.464

Gnomad MID AF: 0.283

Gnomad NFE AF: 0.426

Gnomad OTH AF: 0.355

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

GnomAD4 genome AF: 0.368 AC: 55816 AN: 151540 Hom.: 11209 Cov.: 32 AF XY: 0.372 AC XY: 27546 AN XY: 74070

Gnomad4 AFR AF: 0.229

Gnomad4 AMR AF: 0.476

Gnomad4 ASJ AF: 0.407

Gnomad4 EAS AF: 0.232

Gnomad4 SAS AF: 0.336

Gnomad4 FIN AF: 0.464

Gnomad4 NFE AF: 0.426

Gnomad4 OTH AF: 0.351

Alfa AF: 0.404 Hom.: 4289

Bravo AF: 0.360

Asia WGS AF: 0.286 AC: 1000 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.9
DANN	Benign	0.86

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7006032; hg19: chr8-140259197;