8-100155467-C-T

Variant names:

• chr8-100155467-C-T
• rs2008612

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 0.361 in 152,122 control chromosomes in the GnomAD database, including 10,176 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 0.36 (10176 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.14
• Publications: 14 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 = 0.497 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: 0.361 AC: 54854 AN: 152002 Hom.: 10173 Cov.: 33

Gnomad AFR AF: 0.333

Gnomad AMI AF: 0.353

Gnomad AMR AF: 0.462

Gnomad ASJ AF: 0.348

Gnomad EAS AF: 0.513

Gnomad SAS AF: 0.299

Gnomad FIN AF: 0.332

Gnomad MID AF: 0.357

Gnomad NFE AF: 0.354

Gnomad OTH AF: 0.350

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

GnomAD4 genome AF: 0.361 AC: 54878 AN: 152122 Hom.: 10176 Cov.: 33 AF XY: 0.361 AC XY: 26867 AN XY: 74362

African (AFR) AF: 0.332 AC: 13787 AN: 41504

American (AMR) AF: 0.463 AC: 7070 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.348 AC: 1209 AN: 3472

East Asian (EAS) AF: 0.513 AC: 2659 AN: 5180

South Asian (SAS) AF: 0.300 AC: 1445 AN: 4824

European-Finnish (FIN) AF: 0.332 AC: 3513 AN: 10570

Middle Eastern (MID) AF: 0.349 AC: 102 AN: 292

European-Non Finnish (NFE) AF: 0.354 AC: 24033 AN: 67976

Other (OTH) AF: 0.350 AC: 738 AN: 2108

Alfa AF: 0.357 Hom.: 16819

Bravo AF: 0.373

Asia WGS AF: 0.398 AC: 1385 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	2.2
DANN	Benign	0.63
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs2008612; hg19: chr8-101167695;