rs2723520

chr7-17774053-C-T

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 0.585 in 151,994 control chromosomes in the GnomAD database, including 26,387 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 0.59 (26387 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.83

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.792 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: 0.585 AC: 88855 AN: 151876 Hom.: 26362 Cov.: 31

Gnomad AFR AF: 0.621

Gnomad AMI AF: 0.430

Gnomad AMR AF: 0.668

Gnomad ASJ AF: 0.629

Gnomad EAS AF: 0.812

Gnomad SAS AF: 0.612

Gnomad FIN AF: 0.504

Gnomad MID AF: 0.586

Gnomad NFE AF: 0.538

Gnomad OTH AF: 0.580

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

GnomAD4 genome AF: 0.585 AC: 88931 AN: 151994 Hom.: 26387 Cov.: 31 AF XY: 0.585 AC XY: 43465 AN XY: 74298

Gnomad4 AFR AF: 0.621

Gnomad4 AMR AF: 0.669

Gnomad4 ASJ AF: 0.629

Gnomad4 EAS AF: 0.812

Gnomad4 SAS AF: 0.610

Gnomad4 FIN AF: 0.504

Gnomad4 NFE AF: 0.538

Gnomad4 OTH AF: 0.581

Alfa AF: 0.555 Hom.: 47246

Bravo AF: 0.599

Asia WGS AF: 0.731 AC: 2540 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	0.0030
Dann	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2723520; hg19: chr7-17813677;