8-11765947-C-T

Variant names:

• chr8-11765947-C-T
• rs1466785

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.373 in 152,032 control chromosomes in the GnomAD database, including 11,939 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 (11939 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.943
• Publications: 22 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.537 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: 0.373 AC: 56653 AN: 151914 Hom.: 11930 Cov.: 32

Gnomad AFR AF: 0.175

Gnomad AMI AF: 0.521

Gnomad AMR AF: 0.424

Gnomad ASJ AF: 0.299

Gnomad EAS AF: 0.553

Gnomad SAS AF: 0.496

Gnomad FIN AF: 0.524

Gnomad MID AF: 0.326

Gnomad NFE AF: 0.438

Gnomad OTH AF: 0.363

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

GnomAD4 genome AF: 0.373 AC: 56671 AN: 152032 Hom.: 11939 Cov.: 32 AF XY: 0.384 AC XY: 28495 AN XY: 74302

African (AFR) AF: 0.175 AC: 7260 AN: 41472

American (AMR) AF: 0.424 AC: 6482 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.299 AC: 1038 AN: 3466

East Asian (EAS) AF: 0.554 AC: 2861 AN: 5166

South Asian (SAS) AF: 0.496 AC: 2391 AN: 4820

European-Finnish (FIN) AF: 0.524 AC: 5523 AN: 10544

Middle Eastern (MID) AF: 0.327 AC: 96 AN: 294

European-Non Finnish (NFE) AF: 0.438 AC: 29768 AN: 67974

Other (OTH) AF: 0.370 AC: 778 AN: 2104

Alfa AF: 0.417 Hom.: 8919

Bravo AF: 0.354

Asia WGS AF: 0.508 AC: 1764 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.8
DANN	Benign	0.56
PhyloP100		-0.94

Splicing

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

Other links and lift over

dbSNP: rs1466785; hg19: chr8-11623456; COSMIC: COSV52706313;