5-132673301-GAAAA-GAAAAA

Position:

• chr5-132673301-GAAAA-GAAAAA

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.065 (796 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.885

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.214 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0648 AC: 8811 AN: 136008 Hom.: 792 Cov.: 0

Gnomad AFR AF: 0.218

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0308

Gnomad ASJ AF: 0.00210

Gnomad EAS AF: 0.00114

Gnomad SAS AF: 0.00725

Gnomad FIN AF: 0.0100

Gnomad MID AF: 0.0272

Gnomad NFE AF: 0.00848

Gnomad OTH AF: 0.0535

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

GnomAD4 genome AF: 0.0649 AC: 8829 AN: 136016 Hom.: 796 Cov.: 0 AF XY: 0.0636 AC XY: 4145 AN XY: 65200

Gnomad4 AFR AF: 0.218

Gnomad4 AMR AF: 0.0308

Gnomad4 ASJ AF: 0.00210

Gnomad4 EAS AF: 0.00115

Gnomad4 SAS AF: 0.00729

Gnomad4 FIN AF: 0.0100

Gnomad4 NFE AF: 0.00849

Gnomad4 OTH AF: 0.0540

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs34185442; hg19: chr5-132008993;