rs7831184

Variant names:

• chr8-90132496-T-C
• rs7831184

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 0.544 in 152,072 control chromosomes in the GnomAD database, including 24,188 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 0.54 (24188 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00400

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.668 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: 0.545 AC: 82776 AN: 151954 Hom.: 24194 Cov.: 33

Gnomad AFR AF: 0.353

Gnomad AMI AF: 0.731

Gnomad AMR AF: 0.489

Gnomad ASJ AF: 0.698

Gnomad EAS AF: 0.307

Gnomad SAS AF: 0.533

Gnomad FIN AF: 0.595

Gnomad MID AF: 0.690

Gnomad NFE AF: 0.673

Gnomad OTH AF: 0.570

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

GnomAD4 genome AF: 0.544 AC: 82788 AN: 152072 Hom.: 24188 Cov.: 33 AF XY: 0.538 AC XY: 40000 AN XY: 74352

Gnomad4 AFR AF: 0.353

Gnomad4 AMR AF: 0.489

Gnomad4 ASJ AF: 0.698

Gnomad4 EAS AF: 0.309

Gnomad4 SAS AF: 0.531

Gnomad4 FIN AF: 0.595

Gnomad4 NFE AF: 0.673

Gnomad4 OTH AF: 0.565

Alfa AF: 0.588 Hom.: 5730

Bravo AF: 0.528

Asia WGS AF: 0.396 AC: 1380 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.8
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7831184; hg19: chr8-91144724;