rs7237848

Variant names:

• chr18-4773111-C-T
• rs7237848

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 0.499 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
• Publications: 12 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.426 AC: 17671 AN: 41444

American (AMR) AF: 0.472 AC: 7219 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.618 AC: 2145 AN: 3470

East Asian (EAS) AF: 0.415 AC: 2145 AN: 5166

South Asian (SAS) AF: 0.535 AC: 2577 AN: 4820

European-Finnish (FIN) AF: 0.557 AC: 5889 AN: 10568

Middle Eastern (MID) AF: 0.565 AC: 165 AN: 292

European-Non Finnish (NFE) AF: 0.537 AC: 36496 AN: 67948

Other (OTH) AF: 0.514 AC: 1088 AN: 2116

Alfa AF: 0.527 Hom.: 85033

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
PhyloP100		-0.014

Splicing

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

Other links and lift over

dbSNP: rs7237848; hg19: chr18-4773110;