rs735013

Positions:

• chr6-36736006-C-A
• chr6-36736006-C-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 0.399 in 152,100 control chromosomes in the GnomAD database, including 12,110 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 (12110 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00100

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.477 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: 0.399 AC: 60642 AN: 151982 Hom.: 12102 Cov.: 33

Gnomad AFR AF: 0.390

Gnomad AMI AF: 0.370

Gnomad AMR AF: 0.393

Gnomad ASJ AF: 0.369

Gnomad EAS AF: 0.493

Gnomad SAS AF: 0.454

Gnomad FIN AF: 0.396

Gnomad MID AF: 0.421

Gnomad NFE AF: 0.397

Gnomad OTH AF: 0.416

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

GnomAD4 genome AF: 0.399 AC: 60693 AN: 152100 Hom.: 12110 Cov.: 33 AF XY: 0.401 AC XY: 29789 AN XY: 74356

Gnomad4 AFR AF: 0.390

Gnomad4 AMR AF: 0.392

Gnomad4 ASJ AF: 0.369

Gnomad4 EAS AF: 0.493

Gnomad4 SAS AF: 0.454

Gnomad4 FIN AF: 0.396

Gnomad4 NFE AF: 0.397

Gnomad4 OTH AF: 0.424

Alfa AF: 0.397 Hom.: 4020

Bravo AF: 0.396

Asia WGS AF: 0.493 AC: 1716 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	3.0
DANN	Benign	0.45

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs735013; hg19: chr6-36703783;