rs7233911

Variant names:

• chr18-13931828-C-T
• rs7233911

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 0.368 in 152,078 control chromosomes in the GnomAD database, including 12,276 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 (12276 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00300
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.618 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: 0.368 AC: 55947 AN: 151958 Hom.: 12238 Cov.: 32

Gnomad AFR AF: 0.624

Gnomad AMI AF: 0.343

Gnomad AMR AF: 0.290

Gnomad ASJ AF: 0.263

Gnomad EAS AF: 0.224

Gnomad SAS AF: 0.249

Gnomad FIN AF: 0.277

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.271

Gnomad OTH AF: 0.340

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

GnomAD4 genome AF: 0.368 AC: 56026 AN: 152078 Hom.: 12276 Cov.: 32 AF XY: 0.366 AC XY: 27215 AN XY: 74342

African (AFR) AF: 0.624 AC: 25868 AN: 41436

American (AMR) AF: 0.290 AC: 4429 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.263 AC: 911 AN: 3464

East Asian (EAS) AF: 0.225 AC: 1161 AN: 5164

South Asian (SAS) AF: 0.248 AC: 1195 AN: 4820

European-Finnish (FIN) AF: 0.277 AC: 2936 AN: 10598

Middle Eastern (MID) AF: 0.337 AC: 99 AN: 294

European-Non Finnish (NFE) AF: 0.271 AC: 18406 AN: 67992

Other (OTH) AF: 0.336 AC: 708 AN: 2110

Alfa AF: 0.330 Hom.: 1655

Bravo AF: 0.382

Asia WGS AF: 0.265 AC: 922 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.6
DANN	Benign	0.25
PhyloP100		-0.0030

Splicing

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

Other links and lift over

dbSNP: rs7233911; hg19: chr18-13931827;