rs7237848

Variant names:

• chr18-4773111-C-T
• rs7237848

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.499 in 152,028 control chromosomes in the GnomAD database, including 19,181 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 0.50 (19181 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0140

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.533 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: 0.499 AC: 75844 AN: 151910 Hom.: 19172 Cov.: 33

Gnomad AFR AF: 0.426

Gnomad AMI AF: 0.542

Gnomad AMR AF: 0.472

Gnomad ASJ AF: 0.618

Gnomad EAS AF: 0.416

Gnomad SAS AF: 0.533

Gnomad FIN AF: 0.557

Gnomad MID AF: 0.580

Gnomad NFE AF: 0.537

Gnomad OTH AF: 0.514

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

GnomAD4 genome AF: 0.499 AC: 75889 AN: 152028 Hom.: 19181 Cov.: 33 AF XY: 0.500 AC XY: 37147 AN XY: 74316

Gnomad4 AFR AF: 0.426

Gnomad4 AMR AF: 0.472

Gnomad4 ASJ AF: 0.618

Gnomad4 EAS AF: 0.415

Gnomad4 SAS AF: 0.535

Gnomad4 FIN AF: 0.557

Gnomad4 NFE AF: 0.537

Gnomad4 OTH AF: 0.514

Alfa AF: 0.532 Hom.: 39577

Bravo AF: 0.490

Asia WGS AF: 0.425 AC: 1478 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	1.3
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7237848; hg19: chr18-4773110;