8-11622948-T-C

Variant names:

• chr8-11622948-T-C
• rs2243407

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 0.599 in 152,064 control chromosomes in the GnomAD database, including 28,702 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 0.60 (28702 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.08
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.677 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: 0.599 AC: 91076 AN: 151946 Hom.: 28693 Cov.: 32

Gnomad AFR AF: 0.391

Gnomad AMI AF: 0.661

Gnomad AMR AF: 0.666

Gnomad ASJ AF: 0.653

Gnomad EAS AF: 0.635

Gnomad SAS AF: 0.692

Gnomad FIN AF: 0.696

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.682

Gnomad OTH AF: 0.629

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

GnomAD4 genome AF: 0.599 AC: 91126 AN: 152064 Hom.: 28702 Cov.: 32 AF XY: 0.602 AC XY: 44786 AN XY: 74338

African (AFR) AF: 0.392 AC: 16234 AN: 41466

American (AMR) AF: 0.667 AC: 10195 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.653 AC: 2265 AN: 3470

East Asian (EAS) AF: 0.634 AC: 3281 AN: 5172

South Asian (SAS) AF: 0.690 AC: 3317 AN: 4804

European-Finnish (FIN) AF: 0.696 AC: 7346 AN: 10558

Middle Eastern (MID) AF: 0.599 AC: 176 AN: 294

European-Non Finnish (NFE) AF: 0.682 AC: 46386 AN: 67988

Other (OTH) AF: 0.628 AC: 1323 AN: 2106

Alfa AF: 0.657 Hom.: 124159

Bravo AF: 0.590

Asia WGS AF: 0.665 AC: 2309 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	9.3
DANN	Benign	0.84
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs2243407; hg19: chr8-11480457;