rs7692181

Variant names:

• chr4-63635276-C-T
• rs7692181

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;