7-141033894-A-G

Variant names:

• chr7-141033894-A-G
• rs1068266

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 0.131 in 151,164 control chromosomes in the GnomAD database, including 1,402 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 0.13 (1402 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.40

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.148 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: 0.131 AC: 19855 AN: 151048 Hom.: 1400 Cov.: 29

Gnomad AFR AF: 0.151

Gnomad AMI AF: 0.211

Gnomad AMR AF: 0.0851

Gnomad ASJ AF: 0.132

Gnomad EAS AF: 0.00598

Gnomad SAS AF: 0.0959

Gnomad FIN AF: 0.108

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.145

Gnomad OTH AF: 0.125

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

GnomAD4 genome AF: 0.131 AC: 19870 AN: 151164 Hom.: 1402 Cov.: 29 AF XY: 0.126 AC XY: 9333 AN XY: 73816

Gnomad4 AFR AF: 0.151

Gnomad4 AMR AF: 0.0850

Gnomad4 ASJ AF: 0.132

Gnomad4 EAS AF: 0.00599

Gnomad4 SAS AF: 0.0968

Gnomad4 FIN AF: 0.108

Gnomad4 NFE AF: 0.145

Gnomad4 OTH AF: 0.123

Alfa AF: 0.0539 Hom.: 58

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.86
DANN	Benign	0.27

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1068266; hg19: chr7-140733694;