rs11327127

Positions:

• chr15-101277954-GA-G

Variant summary

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

The variant allele was found at a frequency of 0.248 in 152,054 control chromosomes in the GnomAD database, including 5,002 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.25 (5002 hom., cov: 23)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.446

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.292 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: 0.248 AC: 37684 AN: 151934 Hom.: 4998 Cov.: 23

Gnomad AFR AF: 0.297

Gnomad AMI AF: 0.132

Gnomad AMR AF: 0.195

Gnomad ASJ AF: 0.213

Gnomad EAS AF: 0.0766

Gnomad SAS AF: 0.0647

Gnomad FIN AF: 0.332

Gnomad MID AF: 0.182

Gnomad NFE AF: 0.247

Gnomad OTH AF: 0.237

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

GnomAD4 genome AF: 0.248 AC: 37711 AN: 152054 Hom.: 5002 Cov.: 23 AF XY: 0.247 AC XY: 18361 AN XY: 74308

Gnomad4 AFR AF: 0.296

Gnomad4 AMR AF: 0.195

Gnomad4 ASJ AF: 0.213

Gnomad4 EAS AF: 0.0764

Gnomad4 SAS AF: 0.0644

Gnomad4 FIN AF: 0.332

Gnomad4 NFE AF: 0.247

Gnomad4 OTH AF: 0.240

Alfa AF: 0.0840 Hom.: 131

Bravo AF: 0.242

Asia WGS AF: 0.0980 AC: 343 AN: 3478

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: rs11327127; hg19: chr15-101818159;