7-128923553-G-C

Variant names:

• chr7-128923553-G-C
• rs6968225

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 0.772 in 152,126 control chromosomes in the GnomAD database, including 46,479 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 0.77 (46479 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.416
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.859 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: 0.772 AC: 117384 AN: 152008 Hom.: 46471 Cov.: 32

Gnomad AFR AF: 0.628

Gnomad AMI AF: 0.918

Gnomad AMR AF: 0.675

Gnomad ASJ AF: 0.897

Gnomad EAS AF: 0.598

Gnomad SAS AF: 0.834

Gnomad FIN AF: 0.882

Gnomad MID AF: 0.889

Gnomad NFE AF: 0.864

Gnomad OTH AF: 0.778

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

GnomAD4 genome AF: 0.772 AC: 117433 AN: 152126 Hom.: 46479 Cov.: 32 AF XY: 0.770 AC XY: 57305 AN XY: 74380

African (AFR) AF: 0.628 AC: 26056 AN: 41458

American (AMR) AF: 0.674 AC: 10306 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.897 AC: 3114 AN: 3472

East Asian (EAS) AF: 0.598 AC: 3087 AN: 5166

South Asian (SAS) AF: 0.834 AC: 4021 AN: 4822

European-Finnish (FIN) AF: 0.882 AC: 9348 AN: 10604

Middle Eastern (MID) AF: 0.884 AC: 260 AN: 294

European-Non Finnish (NFE) AF: 0.864 AC: 58772 AN: 67994

Other (OTH) AF: 0.773 AC: 1634 AN: 2114

Alfa AF: 0.779 Hom.: 2592

Bravo AF: 0.750

Asia WGS AF: 0.720 AC: 2502 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.3
DANN	Benign	0.43
PhyloP100		-0.42

Splicing

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

Other links and lift over

dbSNP: rs6968225; hg19: chr7-128563607;