8-35838293-C-T

Variant names:

• chr8-35838293-C-T
• rs6992757

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 0.0489 in 152,220 control chromosomes in the GnomAD database, including 465 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 0.049 (465 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0310

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 (AFR) allele frequency at 95% confidence interval = 0.141 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: 0.0488 AC: 7422 AN: 152102 Hom.: 464 Cov.: 32

Gnomad AFR AF: 0.144

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0259

Gnomad ASJ AF: 0.0288

Gnomad EAS AF: 0.000578

Gnomad SAS AF: 0.0444

Gnomad FIN AF: 0.000848

Gnomad MID AF: 0.0475

Gnomad NFE AF: 0.00950

Gnomad OTH AF: 0.0402

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

GnomAD4 genome AF: 0.0489 AC: 7445 AN: 152220 Hom.: 465 Cov.: 32 AF XY: 0.0480 AC XY: 3573 AN XY: 74434

Gnomad4 AFR AF: 0.144

Gnomad4 AMR AF: 0.0258

Gnomad4 ASJ AF: 0.0288

Gnomad4 EAS AF: 0.000772

Gnomad4 SAS AF: 0.0425

Gnomad4 FIN AF: 0.000848

Gnomad4 NFE AF: 0.00950

Gnomad4 OTH AF: 0.0398

Alfa AF: 0.00787 Hom.: 14

Bravo AF: 0.0536

Asia WGS AF: 0.0240 AC: 85 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	3.5
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6992757; hg19: chr8-35695811;