rs7227757

Variant names:

• chr18-2641036-C-T
• rs7227757

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 0.548 in 151,950 control chromosomes in the GnomAD database, including 23,776 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 0.55 (23776 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.464

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.713 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: 0.548 AC: 83200 AN: 151832 Hom.: 23741 Cov.: 31

Gnomad AFR AF: 0.720

Gnomad AMI AF: 0.324

Gnomad AMR AF: 0.541

Gnomad ASJ AF: 0.440

Gnomad EAS AF: 0.373

Gnomad SAS AF: 0.457

Gnomad FIN AF: 0.475

Gnomad MID AF: 0.566

Gnomad NFE AF: 0.485

Gnomad OTH AF: 0.537

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

GnomAD4 genome AF: 0.548 AC: 83299 AN: 151950 Hom.: 23776 Cov.: 31 AF XY: 0.545 AC XY: 40485 AN XY: 74266

Gnomad4 AFR AF: 0.720

Gnomad4 AMR AF: 0.542

Gnomad4 ASJ AF: 0.440

Gnomad4 EAS AF: 0.372

Gnomad4 SAS AF: 0.459

Gnomad4 FIN AF: 0.475

Gnomad4 NFE AF: 0.485

Gnomad4 OTH AF: 0.538

Alfa AF: 0.490 Hom.: 20596

Bravo AF: 0.567

Asia WGS AF: 0.432 AC: 1501 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.1
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7227757; hg19: chr18-2641035;