rs1568868

Variant names:

• chr7-70984970-C-A
• rs1568868

Your query was ambiguous. Multiple possible variants found:

• chr7-70984970-C-A
• chr7-70984970-C-G
• chr7-70984970-C-T

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 0.844 in 152,104 control chromosomes in the GnomAD database, including 55,256 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 0.84 (55256 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.544
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.966 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: 0.845 AC: 128365 AN: 151986 Hom.: 55233 Cov.: 31

Gnomad AFR AF: 0.664

Gnomad AMI AF: 0.953

Gnomad AMR AF: 0.899

Gnomad ASJ AF: 0.900

Gnomad EAS AF: 0.988

Gnomad SAS AF: 0.912

Gnomad FIN AF: 0.912

Gnomad MID AF: 0.902

Gnomad NFE AF: 0.911

Gnomad OTH AF: 0.871

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

GnomAD4 genome AF: 0.844 AC: 128448 AN: 152104 Hom.: 55256 Cov.: 31 AF XY: 0.848 AC XY: 63085 AN XY: 74352

African (AFR) AF: 0.664 AC: 27496 AN: 41436

American (AMR) AF: 0.899 AC: 13741 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.900 AC: 3125 AN: 3472

East Asian (EAS) AF: 0.988 AC: 5105 AN: 5166

South Asian (SAS) AF: 0.913 AC: 4392 AN: 4812

European-Finnish (FIN) AF: 0.912 AC: 9662 AN: 10592

Middle Eastern (MID) AF: 0.901 AC: 265 AN: 294

European-Non Finnish (NFE) AF: 0.911 AC: 61959 AN: 68028

Other (OTH) AF: 0.869 AC: 1834 AN: 2110

Alfa AF: 0.893 Hom.: 227941

Bravo AF: 0.838

Asia WGS AF: 0.906 AC: 3152 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.2
DANN	Benign	0.42
PhyloP100		0.54

Splicing

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

Other links and lift over

dbSNP: rs1568868; hg19: chr7-70449956;