rs7686284

chr4-44153897-G-A

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 0.27 in 151,714 control chromosomes in the GnomAD database, including 5,889 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 0.27 (5889 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.116

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.479 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: 0.270 AC: 40876 AN: 151596 Hom.: 5870 Cov.: 32

Gnomad AFR AF: 0.339

Gnomad AMI AF: 0.441

Gnomad AMR AF: 0.271

Gnomad ASJ AF: 0.202

Gnomad EAS AF: 0.496

Gnomad SAS AF: 0.272

Gnomad FIN AF: 0.221

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.219

Gnomad OTH AF: 0.252

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

GnomAD4 genome AF: 0.270 AC: 40953 AN: 151714 Hom.: 5889 Cov.: 32 AF XY: 0.272 AC XY: 20194 AN XY: 74128

Gnomad4 AFR AF: 0.340

Gnomad4 AMR AF: 0.271

Gnomad4 ASJ AF: 0.202

Gnomad4 EAS AF: 0.495

Gnomad4 SAS AF: 0.271

Gnomad4 FIN AF: 0.221

Gnomad4 NFE AF: 0.219

Gnomad4 OTH AF: 0.257

Alfa AF: 0.242 Hom.: 2177

Bravo AF: 0.280

Asia WGS AF: 0.380 AC: 1319 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
Cadd	Benign	1.6
Dann	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7686284; hg19: chr4-44155914;