rs6968225

chr7-128923553-G-Cchr7-128923553-G-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 0.772 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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

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

Gnomad4 AFR AF: 0.628

Gnomad4 AMR AF: 0.674

Gnomad4 ASJ AF: 0.897

Gnomad4 EAS AF: 0.598

Gnomad4 SAS AF: 0.834

Gnomad4 FIN AF: 0.882

Gnomad4 NFE AF: 0.864

Gnomad4 OTH AF: 0.773

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 v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
Cadd	Benign	1.3
Dann	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6968225; hg19: chr7-128563607;