rs7793277

Positions:

• chr7-97730273-C-G
• chr7-97730273-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 0.281 in 152,064 control chromosomes in the GnomAD database, including 6,396 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 0.28 (6396 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.244

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 = 0.368 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.281 AC: 42702 AN: 151946 Hom.: 6379 Cov.: 32

Gnomad AFR AF: 0.372

Gnomad AMI AF: 0.184

Gnomad AMR AF: 0.217

Gnomad ASJ AF: 0.217

Gnomad EAS AF: 0.0734

Gnomad SAS AF: 0.200

Gnomad FIN AF: 0.242

Gnomad MID AF: 0.263

Gnomad NFE AF: 0.273

Gnomad OTH AF: 0.249

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

GnomAD4 genome AF: 0.281 AC: 42760 AN: 152064 Hom.: 6396 Cov.: 32 AF XY: 0.275 AC XY: 20460 AN XY: 74342

Gnomad4 AFR AF: 0.373

Gnomad4 AMR AF: 0.217

Gnomad4 ASJ AF: 0.217

Gnomad4 EAS AF: 0.0736

Gnomad4 SAS AF: 0.201

Gnomad4 FIN AF: 0.242

Gnomad4 NFE AF: 0.273

Gnomad4 OTH AF: 0.247

Alfa AF: 0.268 Hom.: 699

Bravo AF: 0.283

Asia WGS AF: 0.134 AC: 463 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	1.0
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7793277; hg19: chr7-97359585;