8-121198650-T-C

Variant names:

• chr8-121198650-T-C
• rs7819988

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 0.48 in 151,968 control chromosomes in the GnomAD database, including 17,690 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 0.48 (17690 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.455

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.64 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: 0.480 AC: 72815 AN: 151850 Hom.: 17677 Cov.: 32

Gnomad AFR AF: 0.492

Gnomad AMI AF: 0.314

Gnomad AMR AF: 0.539

Gnomad ASJ AF: 0.435

Gnomad EAS AF: 0.612

Gnomad SAS AF: 0.658

Gnomad FIN AF: 0.435

Gnomad MID AF: 0.389

Gnomad NFE AF: 0.448

Gnomad OTH AF: 0.481

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

GnomAD4 genome AF: 0.480 AC: 72880 AN: 151968 Hom.: 17690 Cov.: 32 AF XY: 0.484 AC XY: 35956 AN XY: 74264

Gnomad4 AFR AF: 0.492

Gnomad4 AMR AF: 0.539

Gnomad4 ASJ AF: 0.435

Gnomad4 EAS AF: 0.613

Gnomad4 SAS AF: 0.659

Gnomad4 FIN AF: 0.435

Gnomad4 NFE AF: 0.448

Gnomad4 OTH AF: 0.480

Alfa AF: 0.471 Hom.: 2071

Bravo AF: 0.483

Asia WGS AF: 0.618 AC: 2147 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	7.9
DANN	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7819988; hg19: chr8-122210890;