7-36506461-T-G

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 0.476 in 152,080 control chromosomes in the GnomAD database, including 18,295 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 0.48 (18295 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.109

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.82 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.476 AC: 72284 AN: 151962 Hom.: 18283 Cov.: 32

Gnomad AFR AF: 0.305

Gnomad AMI AF: 0.405

Gnomad AMR AF: 0.566

Gnomad ASJ AF: 0.563

Gnomad EAS AF: 0.841

Gnomad SAS AF: 0.562

Gnomad FIN AF: 0.457

Gnomad MID AF: 0.503

Gnomad NFE AF: 0.524

Gnomad OTH AF: 0.485

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

GnomAD4 genome AF: 0.476 AC: 72326 AN: 152080 Hom.: 18295 Cov.: 32 AF XY: 0.476 AC XY: 35389 AN XY: 74354

Gnomad4 AFR AF: 0.306

Gnomad4 AMR AF: 0.567

Gnomad4 ASJ AF: 0.563

Gnomad4 EAS AF: 0.841

Gnomad4 SAS AF: 0.563

Gnomad4 FIN AF: 0.457

Gnomad4 NFE AF: 0.524

Gnomad4 OTH AF: 0.479

Alfa AF: 0.218 Hom.: 341

Bravo AF: 0.479

Asia WGS AF: 0.623 AC: 2162 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
Cadd	Benign	6.2
Dann	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7777593; hg19: chr7-36546069;