rs11635084

Variant names:

• chr15-78394481-A-G
• rs11635084

Your query was ambiguous. Multiple possible variants found:

• chr15-78394481-A-G
• chr15-78394481-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.485 in 151,962 control chromosomes in the GnomAD database, including 19,394 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 0.49 (19394 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.164

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.693 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: 0.485 AC: 73636 AN: 151844 Hom.: 19362 Cov.: 31

Gnomad AFR AF: 0.699

Gnomad AMI AF: 0.441

Gnomad AMR AF: 0.383

Gnomad ASJ AF: 0.384

Gnomad EAS AF: 0.544

Gnomad SAS AF: 0.392

Gnomad FIN AF: 0.463

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.390

Gnomad OTH AF: 0.451

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

GnomAD4 genome AF: 0.485 AC: 73709 AN: 151962 Hom.: 19394 Cov.: 31 AF XY: 0.486 AC XY: 36122 AN XY: 74256

Gnomad4 AFR AF: 0.700

Gnomad4 AMR AF: 0.382

Gnomad4 ASJ AF: 0.384

Gnomad4 EAS AF: 0.544

Gnomad4 SAS AF: 0.391

Gnomad4 FIN AF: 0.463

Gnomad4 NFE AF: 0.390

Gnomad4 OTH AF: 0.453

Alfa AF: 0.399 Hom.: 24335

Bravo AF: 0.493

Asia WGS AF: 0.508 AC: 1764 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.98
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11635084; hg19: chr15-78686823;