chr5-181086467-G-A

Variant names:

• chr5-181086467-G-A
• rs730545

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 0.353 in 152,050 control chromosomes in the GnomAD database, including 9,932 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 0.35 (9932 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0380
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.48 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: 0.353 AC: 53684 AN: 151928 Hom.: 9924 Cov.: 32

Gnomad AFR AF: 0.254

Gnomad AMI AF: 0.464

Gnomad AMR AF: 0.415

Gnomad ASJ AF: 0.300

Gnomad EAS AF: 0.496

Gnomad SAS AF: 0.242

Gnomad FIN AF: 0.333

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.402

Gnomad OTH AF: 0.332

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

GnomAD4 genome AF: 0.353 AC: 53736 AN: 152050 Hom.: 9932 Cov.: 32 AF XY: 0.349 AC XY: 25959 AN XY: 74294

African (AFR) AF: 0.254 AC: 10550 AN: 41482

American (AMR) AF: 0.416 AC: 6358 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.300 AC: 1039 AN: 3468

East Asian (EAS) AF: 0.496 AC: 2556 AN: 5154

South Asian (SAS) AF: 0.242 AC: 1168 AN: 4824

European-Finnish (FIN) AF: 0.333 AC: 3523 AN: 10576

Middle Eastern (MID) AF: 0.259 AC: 76 AN: 294

European-Non Finnish (NFE) AF: 0.402 AC: 27340 AN: 67954

Other (OTH) AF: 0.334 AC: 703 AN: 2102

Alfa AF: 0.387 Hom.: 23082

Bravo AF: 0.357

Asia WGS AF: 0.372 AC: 1294 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.0
DANN	Benign	0.85
PhyloP100		0.038

Splicing

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

Other links and lift over

dbSNP: rs730545; hg19: chr5-180513467;