rs7036455

Variant names:

• chr9-86939182-T-C
• rs7036455

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 0.579 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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.579 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

Gnomad4 AFR AF: 0.824

Gnomad4 AMR AF: 0.560

Gnomad4 ASJ AF: 0.484

Gnomad4 EAS AF: 0.481

Gnomad4 SAS AF: 0.470

Gnomad4 FIN AF: 0.524

Gnomad4 NFE AF: 0.465

Gnomad4 OTH AF: 0.567

Alfa AF: 0.482 Hom.: 37504

Bravo AF: 0.593

Asia WGS AF: 0.508 AC: 1769 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7036455; hg19: chr9-89554097;