rs7241996

chr18-37910251-T-C

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 0.244 in 151,844 control chromosomes in the GnomAD database, including 4,980 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 0.24 (4980 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.216

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.38 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.244 AC: 36994 AN: 151726 Hom.: 4979 Cov.: 31

Gnomad AFR AF: 0.148

Gnomad AMI AF: 0.231

Gnomad AMR AF: 0.388

Gnomad ASJ AF: 0.224

Gnomad EAS AF: 0.184

Gnomad SAS AF: 0.221

Gnomad FIN AF: 0.273

Gnomad MID AF: 0.213

Gnomad NFE AF: 0.271

Gnomad OTH AF: 0.278

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

GnomAD4 genome AF: 0.244 AC: 37005 AN: 151844 Hom.: 4980 Cov.: 31 AF XY: 0.243 AC XY: 18052 AN XY: 74204

Gnomad4 AFR AF: 0.148

Gnomad4 AMR AF: 0.388

Gnomad4 ASJ AF: 0.224

Gnomad4 EAS AF: 0.186

Gnomad4 SAS AF: 0.221

Gnomad4 FIN AF: 0.273

Gnomad4 NFE AF: 0.271

Gnomad4 OTH AF: 0.275

Alfa AF: 0.271 Hom.: 1043

Bravo AF: 0.249

Asia WGS AF: 0.205 AC: 712 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
Cadd	Benign	3.4
Dann	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7241996; hg19: chr18-35490215;