rs735013

Variant names:

• chr6-36736006-C-A
• rs735013

Your query was ambiguous. Multiple possible variants found:

• chr6-36736006-C-A
• chr6-36736006-C-T

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.390 AC: 16189 AN: 41514

American (AMR) AF: 0.392 AC: 5991 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.369 AC: 1281 AN: 3472

East Asian (EAS) AF: 0.493 AC: 2548 AN: 5168

South Asian (SAS) AF: 0.454 AC: 2188 AN: 4822

European-Finnish (FIN) AF: 0.396 AC: 4185 AN: 10572

Middle Eastern (MID) AF: 0.425 AC: 125 AN: 294

European-Non Finnish (NFE) AF: 0.397 AC: 26958 AN: 67946

Other (OTH) AF: 0.424 AC: 893 AN: 2108

Alfa AF: 0.397 Hom.: 4785

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
PhyloP100		-0.0010

Splicing

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

Other links and lift over

dbSNP: rs735013; hg19: chr6-36703783;