rs7036455

Variant names:

• chr9-86939182-T-C
• rs7036455

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 0.579 in 152,042 control chromosomes in the GnomAD database, including 27,427 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 0.58 (27427 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.587
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.816 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.579 AC: 87951 AN: 151924 Hom.: 27365 Cov.: 32

Gnomad AFR AF: 0.823

Gnomad AMI AF: 0.412

Gnomad AMR AF: 0.560

Gnomad ASJ AF: 0.484

Gnomad EAS AF: 0.481

Gnomad SAS AF: 0.467

Gnomad FIN AF: 0.524

Gnomad MID AF: 0.589

Gnomad NFE AF: 0.465

Gnomad OTH AF: 0.570

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

GnomAD4 genome AF: 0.579 AC: 88078 AN: 152042 Hom.: 27427 Cov.: 32 AF XY: 0.581 AC XY: 43198 AN XY: 74308

African (AFR) AF: 0.824 AC: 34193 AN: 41506

American (AMR) AF: 0.560 AC: 8565 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.484 AC: 1678 AN: 3466

East Asian (EAS) AF: 0.481 AC: 2474 AN: 5148

South Asian (SAS) AF: 0.470 AC: 2255 AN: 4802

European-Finnish (FIN) AF: 0.524 AC: 5536 AN: 10558

Middle Eastern (MID) AF: 0.595 AC: 175 AN: 294

European-Non Finnish (NFE) AF: 0.465 AC: 31636 AN: 67970

Other (OTH) AF: 0.567 AC: 1191 AN: 2102

Alfa AF: 0.497 Hom.: 86178

Bravo AF: 0.593

Asia WGS AF: 0.508 AC: 1769 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.2
DANN	Benign	0.83
PhyloP100		-0.59

Splicing

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

Other links and lift over

dbSNP: rs7036455; hg19: chr9-89554097;