rs2333277

Variant names:

• chr18-64600900-A-C
• rs2333277

Your query was ambiguous. Multiple possible variants found:

• chr18-64600900-A-C
• chr18-64600900-A-T

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 0.127 in 152,154 control chromosomes in the GnomAD database, including 2,007 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 0.13 (2007 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.92
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.1).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.289 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: 0.127 AC: 19355 AN: 152036 Hom.: 2006 Cov.: 32

Gnomad AFR AF: 0.294

Gnomad AMI AF: 0.0647

Gnomad AMR AF: 0.0837

Gnomad ASJ AF: 0.0516

Gnomad EAS AF: 0.0394

Gnomad SAS AF: 0.0800

Gnomad FIN AF: 0.0263

Gnomad MID AF: 0.0348

Gnomad NFE AF: 0.0672

Gnomad OTH AF: 0.120

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

GnomAD4 genome AF: 0.127 AC: 19387 AN: 152154 Hom.: 2007 Cov.: 32 AF XY: 0.123 AC XY: 9142 AN XY: 74430

African (AFR) AF: 0.294 AC: 12164 AN: 41432

American (AMR) AF: 0.0836 AC: 1278 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.0516 AC: 179 AN: 3470

East Asian (EAS) AF: 0.0395 AC: 205 AN: 5188

South Asian (SAS) AF: 0.0798 AC: 385 AN: 4824

European-Finnish (FIN) AF: 0.0263 AC: 279 AN: 10628

Middle Eastern (MID) AF: 0.0408 AC: 12 AN: 294

European-Non Finnish (NFE) AF: 0.0673 AC: 4574 AN: 67996

Other (OTH) AF: 0.119 AC: 252 AN: 2114

Alfa AF: 0.0468 Hom.: 63

Bravo AF: 0.140

Asia WGS AF: 0.104 AC: 364 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	1.6
DANN	Benign	0.21
PhyloP100		-1.9

Splicing

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

Other links and lift over

dbSNP: rs2333277; hg19: chr18-62268135;