chr15-101277954-GA-G

Variant names:

• chr15-101277954-GA-G
• rs11327127

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;