chr10-36819981-G-T

Variant names:

• chr10-36819981-G-T
• rs11817755

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 0.396 in 151,908 control chromosomes in the GnomAD database, including 12,453 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 0.40 (12453 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.123

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.72 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: 0.396 AC: 60142 AN: 151786 Hom.: 12443 Cov.: 34

Gnomad AFR AF: 0.361

Gnomad AMI AF: 0.307

Gnomad AMR AF: 0.445

Gnomad ASJ AF: 0.343

Gnomad EAS AF: 0.739

Gnomad SAS AF: 0.626

Gnomad FIN AF: 0.394

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.368

Gnomad OTH AF: 0.388

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

GnomAD4 genome AF: 0.396 AC: 60170 AN: 151908 Hom.: 12453 Cov.: 34 AF XY: 0.404 AC XY: 30001 AN XY: 74238

Gnomad4 AFR AF: 0.360

Gnomad4 AMR AF: 0.445

Gnomad4 ASJ AF: 0.343

Gnomad4 EAS AF: 0.740

Gnomad4 SAS AF: 0.626

Gnomad4 FIN AF: 0.394

Gnomad4 NFE AF: 0.368

Gnomad4 OTH AF: 0.390

Alfa AF: 0.219 Hom.: 444

Bravo AF: 0.396

Asia WGS AF: 0.665 AC: 2310 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	2.1
DANN	Benign	0.27

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11817755; hg19: chr10-37108909;