7-45133785-T-G

Variant names:

• chr7-45133785-T-G
• rs1866571

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 0.507 in 152,152 control chromosomes in the GnomAD database, including 21,046 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 0.51 (21046 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.620
• Publications: 5 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 = 0.719 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: 0.507 AC: 77036 AN: 152034 Hom.: 21008 Cov.: 33

Gnomad AFR AF: 0.726

Gnomad AMI AF: 0.391

Gnomad AMR AF: 0.486

Gnomad ASJ AF: 0.512

Gnomad EAS AF: 0.329

Gnomad SAS AF: 0.381

Gnomad FIN AF: 0.319

Gnomad MID AF: 0.421

Gnomad NFE AF: 0.433

Gnomad OTH AF: 0.465

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

GnomAD4 genome AF: 0.507 AC: 77122 AN: 152152 Hom.: 21046 Cov.: 33 AF XY: 0.496 AC XY: 36898 AN XY: 74376

African (AFR) AF: 0.726 AC: 30130 AN: 41508

American (AMR) AF: 0.486 AC: 7427 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.512 AC: 1779 AN: 3472

East Asian (EAS) AF: 0.330 AC: 1706 AN: 5176

South Asian (SAS) AF: 0.380 AC: 1834 AN: 4832

European-Finnish (FIN) AF: 0.319 AC: 3375 AN: 10578

Middle Eastern (MID) AF: 0.422 AC: 124 AN: 294

European-Non Finnish (NFE) AF: 0.433 AC: 29416 AN: 67980

Other (OTH) AF: 0.462 AC: 974 AN: 2108

Alfa AF: 0.451 Hom.: 50266

Bravo AF: 0.528

Asia WGS AF: 0.384 AC: 1342 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.47
DANN	Benign	0.59
PhyloP100		-0.62

Splicing

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

Other links and lift over

dbSNP: rs1866571; hg19: chr7-45173384;