rs6950728

Variant names:

• chr7-128925607-G-A
• rs6950728

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 0.28 in 151,692 control chromosomes in the GnomAD database, including 6,392 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 (6392 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.194
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.323 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: 0.280 AC: 42438 AN: 151574 Hom.: 6390 Cov.: 31

Gnomad AFR AF: 0.199

Gnomad AMI AF: 0.394

Gnomad AMR AF: 0.217

Gnomad ASJ AF: 0.279

Gnomad EAS AF: 0.316

Gnomad SAS AF: 0.314

Gnomad FIN AF: 0.351

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.327

Gnomad OTH AF: 0.255

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

GnomAD4 genome AF: 0.280 AC: 42457 AN: 151692 Hom.: 6392 Cov.: 31 AF XY: 0.282 AC XY: 20907 AN XY: 74096

African (AFR) AF: 0.199 AC: 8232 AN: 41370

American (AMR) AF: 0.217 AC: 3305 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.279 AC: 969 AN: 3470

East Asian (EAS) AF: 0.316 AC: 1632 AN: 5172

South Asian (SAS) AF: 0.313 AC: 1508 AN: 4812

European-Finnish (FIN) AF: 0.351 AC: 3670 AN: 10454

Middle Eastern (MID) AF: 0.282 AC: 83 AN: 294

European-Non Finnish (NFE) AF: 0.327 AC: 22167 AN: 67862

Other (OTH) AF: 0.254 AC: 534 AN: 2106

Alfa AF: 0.294 Hom.: 928

Bravo AF: 0.266

Asia WGS AF: 0.304 AC: 1043 AN: 3444

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.3
DANN	Benign	0.31
PhyloP100		0.19

Splicing

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

Other links and lift over

dbSNP: rs6950728; hg19: chr7-128565661;