7-128923724-G-C

Variant names:

• chr7-128923724-G-C
• rs6968508

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 152,182 control chromosomes in the GnomAD database, including 46,501 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 (46501 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.12
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.859 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: 0.772 AC: 117416 AN: 152062 Hom.: 46492 Cov.: 32

Gnomad AFR AF: 0.628

Gnomad AMI AF: 0.918

Gnomad AMR AF: 0.675

Gnomad ASJ AF: 0.896

Gnomad EAS AF: 0.599

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: 117467 AN: 152182 Hom.: 46501 Cov.: 32 AF XY: 0.771 AC XY: 57337 AN XY: 74410

African (AFR) AF: 0.628 AC: 26048 AN: 41480

American (AMR) AF: 0.674 AC: 10301 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.896 AC: 3109 AN: 3470

East Asian (EAS) AF: 0.599 AC: 3093 AN: 5162

South Asian (SAS) AF: 0.833 AC: 4027 AN: 4832

European-Finnish (FIN) AF: 0.882 AC: 9365 AN: 10618

Middle Eastern (MID) AF: 0.884 AC: 258 AN: 292

European-Non Finnish (NFE) AF: 0.864 AC: 58794 AN: 68016

Other (OTH) AF: 0.773 AC: 1635 AN: 2114

Alfa AF: 0.814 Hom.: 6369

Bravo AF: 0.750

Asia WGS AF: 0.723 AC: 2513 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.27
DANN	Benign	0.23
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs6968508; hg19: chr7-128563778;