7-36063679-C-T

Variant names:

• chr7-36063679-C-T
• rs1806468

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 0.799 in 151,994 control chromosomes in the GnomAD database, including 49,693 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 0.80 (49693 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.34
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.884 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.799 AC: 121390 AN: 151876 Hom.: 49671 Cov.: 30

Gnomad AFR AF: 0.624

Gnomad AMI AF: 0.907

Gnomad AMR AF: 0.883

Gnomad ASJ AF: 0.903

Gnomad EAS AF: 0.573

Gnomad SAS AF: 0.756

Gnomad FIN AF: 0.858

Gnomad MID AF: 0.908

Gnomad NFE AF: 0.890

Gnomad OTH AF: 0.834

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

GnomAD4 genome AF: 0.799 AC: 121458 AN: 151994 Hom.: 49693 Cov.: 30 AF XY: 0.799 AC XY: 59323 AN XY: 74282

African (AFR) AF: 0.624 AC: 25822 AN: 41380

American (AMR) AF: 0.883 AC: 13496 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.903 AC: 3133 AN: 3470

East Asian (EAS) AF: 0.573 AC: 2957 AN: 5162

South Asian (SAS) AF: 0.755 AC: 3640 AN: 4822

European-Finnish (FIN) AF: 0.858 AC: 9067 AN: 10570

Middle Eastern (MID) AF: 0.897 AC: 262 AN: 292

European-Non Finnish (NFE) AF: 0.890 AC: 60506 AN: 67990

Other (OTH) AF: 0.828 AC: 1748 AN: 2112

Alfa AF: 0.859 Hom.: 164173

Bravo AF: 0.793

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.81
DANN	Benign	0.46
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs1806468; hg19: chr7-36103289;