18-38277583-C-T

Variant names:

• chr18-38277583-C-T
• rs8091635

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 0.289 in 151,822 control chromosomes in the GnomAD database, including 7,371 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 0.29 (7371 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0420
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.362 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: 0.289 AC: 43774 AN: 151704 Hom.: 7358 Cov.: 31

Gnomad AFR AF: 0.109

Gnomad AMI AF: 0.468

Gnomad AMR AF: 0.369

Gnomad ASJ AF: 0.333

Gnomad EAS AF: 0.293

Gnomad SAS AF: 0.204

Gnomad FIN AF: 0.383

Gnomad MID AF: 0.316

Gnomad NFE AF: 0.365

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.289 AC: 43805 AN: 151822 Hom.: 7371 Cov.: 31 AF XY: 0.288 AC XY: 21335 AN XY: 74156

African (AFR) AF: 0.109 AC: 4524 AN: 41458

American (AMR) AF: 0.370 AC: 5626 AN: 15218

Ashkenazi Jewish (ASJ) AF: 0.333 AC: 1155 AN: 3466

East Asian (EAS) AF: 0.294 AC: 1506 AN: 5130

South Asian (SAS) AF: 0.206 AC: 992 AN: 4816

European-Finnish (FIN) AF: 0.383 AC: 4032 AN: 10522

Middle Eastern (MID) AF: 0.316 AC: 93 AN: 294

European-Non Finnish (NFE) AF: 0.365 AC: 24797 AN: 67904

Other (OTH) AF: 0.311 AC: 654 AN: 2104

Alfa AF: 0.278 Hom.: 1282

Bravo AF: 0.281

Asia WGS AF: 0.267 AC: 925 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.010
DANN	Benign	0.18
PhyloP100		0.042

Splicing

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

Other links and lift over

dbSNP: rs8091635; hg19: chr18-35857547;