7-145699048-A-G

Variant names:

• chr7-145699048-A-G
• rs850545

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 0.578 in 151,916 control chromosomes in the GnomAD database, including 26,122 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 0.58 (26122 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.475
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.671 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.578 AC: 87671 AN: 151798 Hom.: 26089 Cov.: 31

Gnomad AFR AF: 0.677

Gnomad AMI AF: 0.652

Gnomad AMR AF: 0.466

Gnomad ASJ AF: 0.594

Gnomad EAS AF: 0.221

Gnomad SAS AF: 0.446

Gnomad FIN AF: 0.563

Gnomad MID AF: 0.729

Gnomad NFE AF: 0.578

Gnomad OTH AF: 0.575

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

GnomAD4 genome AF: 0.578 AC: 87744 AN: 151916 Hom.: 26122 Cov.: 31 AF XY: 0.571 AC XY: 42365 AN XY: 74232

African (AFR) AF: 0.678 AC: 28097 AN: 41454

American (AMR) AF: 0.465 AC: 7103 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.594 AC: 2064 AN: 3472

East Asian (EAS) AF: 0.220 AC: 1135 AN: 5150

South Asian (SAS) AF: 0.446 AC: 2149 AN: 4814

European-Finnish (FIN) AF: 0.563 AC: 5933 AN: 10530

Middle Eastern (MID) AF: 0.736 AC: 215 AN: 292

European-Non Finnish (NFE) AF: 0.578 AC: 39252 AN: 67910

Other (OTH) AF: 0.570 AC: 1201 AN: 2108

Alfa AF: 0.580 Hom.: 48297

Bravo AF: 0.574

Asia WGS AF: 0.317 AC: 1105 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	3.6
DANN	Benign	0.65
PhyloP100		0.47

Splicing

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

Other links and lift over

dbSNP: rs850545; hg19: chr7-145396141;