chr6-36695875-G-A

Variant names:

• chr6-36695875-G-A
• rs2145047

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 0.936 in 152,278 control chromosomes in the GnomAD database, including 66,911 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 0.94 (66911 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.199

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.977 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: 0.936 AC: 142492 AN: 152160 Hom.: 66856 Cov.: 33

Gnomad AFR AF: 0.985

Gnomad AMI AF: 0.955

Gnomad AMR AF: 0.899

Gnomad ASJ AF: 0.967

Gnomad EAS AF: 0.996

Gnomad SAS AF: 0.942

Gnomad FIN AF: 0.879

Gnomad MID AF: 0.959

Gnomad NFE AF: 0.917

Gnomad OTH AF: 0.943

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

GnomAD4 genome AF: 0.936 AC: 142606 AN: 152278 Hom.: 66911 Cov.: 33 AF XY: 0.935 AC XY: 69620 AN XY: 74456

Gnomad4 AFR AF: 0.985

Gnomad4 AMR AF: 0.898

Gnomad4 ASJ AF: 0.967

Gnomad4 EAS AF: 0.996

Gnomad4 SAS AF: 0.941

Gnomad4 FIN AF: 0.879

Gnomad4 NFE AF: 0.917

Gnomad4 OTH AF: 0.945

Alfa AF: 0.928 Hom.: 16542

Bravo AF: 0.941

Asia WGS AF: 0.972 AC: 3369 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.75
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2145047; hg19: chr6-36663652;