rs7692181

chr4-63635276-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 0.296 in 151,888 control chromosomes in the GnomAD database, including 7,477 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 0.30 (7477 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.723

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.04).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.362 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: 0.296 AC: 44912 AN: 151770 Hom.: 7487 Cov.: 32

Gnomad AFR AF: 0.165

Gnomad AMI AF: 0.349

Gnomad AMR AF: 0.247

Gnomad ASJ AF: 0.433

Gnomad EAS AF: 0.255

Gnomad SAS AF: 0.288

Gnomad FIN AF: 0.398

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.366

Gnomad OTH AF: 0.313

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

GnomAD4 genome AF: 0.296 AC: 44910 AN: 151888 Hom.: 7477 Cov.: 32 AF XY: 0.295 AC XY: 21860 AN XY: 74212

Gnomad4 AFR AF: 0.165

Gnomad4 AMR AF: 0.247

Gnomad4 ASJ AF: 0.433

Gnomad4 EAS AF: 0.255

Gnomad4 SAS AF: 0.287

Gnomad4 FIN AF: 0.398

Gnomad4 NFE AF: 0.366

Gnomad4 OTH AF: 0.314

Alfa AF: 0.362 Hom.: 9988

Bravo AF: 0.278

Asia WGS AF: 0.258 AC: 898 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	1.0
Dann	Benign	0.24

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7692181; hg19: chr4-64500994;