7-45885442-A-G

Variant names:

• chr7-45885442-A-G
• rs1995051

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 0.698 in 152,026 control chromosomes in the GnomAD database, including 37,348 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 0.70 (37348 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.316
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.758 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: 0.698 AC: 106078 AN: 151908 Hom.: 37321 Cov.: 32

Gnomad AFR AF: 0.715

Gnomad AMI AF: 0.694

Gnomad AMR AF: 0.688

Gnomad ASJ AF: 0.794

Gnomad EAS AF: 0.740

Gnomad SAS AF: 0.779

Gnomad FIN AF: 0.527

Gnomad MID AF: 0.778

Gnomad NFE AF: 0.703

Gnomad OTH AF: 0.713

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

GnomAD4 genome AF: 0.698 AC: 106147 AN: 152026 Hom.: 37348 Cov.: 32 AF XY: 0.692 AC XY: 51403 AN XY: 74316

African (AFR) AF: 0.715 AC: 29665 AN: 41494

American (AMR) AF: 0.687 AC: 10494 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.794 AC: 2755 AN: 3470

East Asian (EAS) AF: 0.739 AC: 3793 AN: 5130

South Asian (SAS) AF: 0.779 AC: 3744 AN: 4806

European-Finnish (FIN) AF: 0.527 AC: 5572 AN: 10578

Middle Eastern (MID) AF: 0.762 AC: 224 AN: 294

European-Non Finnish (NFE) AF: 0.703 AC: 47767 AN: 67960

Other (OTH) AF: 0.715 AC: 1503 AN: 2102

Alfa AF: 0.697 Hom.: 22933

Bravo AF: 0.709

Asia WGS AF: 0.746 AC: 2596 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	5.1
DANN	Benign	0.76
PhyloP100		0.32

Splicing

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

Other links and lift over

dbSNP: rs1995051; hg19: chr7-45925041;