rs7445832

Variant names:

• chr5-63290474-T-A
• rs7445832

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 0.263 in 151,018 control chromosomes in the GnomAD database, including 5,854 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 0.26 (5854 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.159
• Publications: 18 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 = 0.383 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: 0.263 AC: 39703 AN: 150900 Hom.: 5841 Cov.: 30

Gnomad AFR AF: 0.388

Gnomad AMI AF: 0.173

Gnomad AMR AF: 0.226

Gnomad ASJ AF: 0.250

Gnomad EAS AF: 0.142

Gnomad SAS AF: 0.134

Gnomad FIN AF: 0.125

Gnomad MID AF: 0.436

Gnomad NFE AF: 0.236

Gnomad OTH AF: 0.271

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

GnomAD4 genome AF: 0.263 AC: 39737 AN: 151018 Hom.: 5854 Cov.: 30 AF XY: 0.256 AC XY: 18901 AN XY: 73770

African (AFR) AF: 0.388 AC: 16001 AN: 41250

American (AMR) AF: 0.226 AC: 3417 AN: 15114

Ashkenazi Jewish (ASJ) AF: 0.250 AC: 861 AN: 3448

East Asian (EAS) AF: 0.142 AC: 728 AN: 5120

South Asian (SAS) AF: 0.135 AC: 648 AN: 4810

European-Finnish (FIN) AF: 0.125 AC: 1320 AN: 10556

Middle Eastern (MID) AF: 0.438 AC: 128 AN: 292

European-Non Finnish (NFE) AF: 0.236 AC: 15916 AN: 67438

Other (OTH) AF: 0.270 AC: 561 AN: 2080

Alfa AF: 0.247 Hom.: 686

Bravo AF: 0.280

Asia WGS AF: 0.146 AC: 510 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.8
DANN	Benign	0.68
PhyloP100		0.16

Splicing

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

Other links and lift over

dbSNP: rs7445832; hg19: chr5-62586301;