7-97730273-C-G

Variant names:

• chr7-97730273-C-G
• rs7793277

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.373 AC: 15454 AN: 41454

American (AMR) AF: 0.217 AC: 3313 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.217 AC: 752 AN: 3468

East Asian (EAS) AF: 0.0736 AC: 381 AN: 5176

South Asian (SAS) AF: 0.201 AC: 969 AN: 4826

European-Finnish (FIN) AF: 0.242 AC: 2559 AN: 10582

Middle Eastern (MID) AF: 0.255 AC: 75 AN: 294

European-Non Finnish (NFE) AF: 0.273 AC: 18568 AN: 67952

Other (OTH) AF: 0.247 AC: 522 AN: 2112

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.0
DANN	Benign	0.71
PhyloP100		-0.24

Splicing

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

Other links and lift over

dbSNP: rs7793277; hg19: chr7-97359585;