rs9360055

chr6-94230551-G-Achr6-94230551-G-Cchr6-94230551-G-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.132 in 152,072 control chromosomes in the GnomAD database, including 1,718 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 0.13 (1718 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.817

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.29).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.288 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.132 AC: 20128 AN: 151954 Hom.: 1714 Cov.: 32

Gnomad AFR AF: 0.0323

Gnomad AMI AF: 0.106

Gnomad AMR AF: 0.125

Gnomad ASJ AF: 0.103

Gnomad EAS AF: 0.300

Gnomad SAS AF: 0.182

Gnomad FIN AF: 0.166

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.176

Gnomad OTH AF: 0.124

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

GnomAD4 genome AF: 0.132 AC: 20145 AN: 152072 Hom.: 1718 Cov.: 32 AF XY: 0.134 AC XY: 9934 AN XY: 74358

Gnomad4 AFR AF: 0.0323

Gnomad4 AMR AF: 0.126

Gnomad4 ASJ AF: 0.103

Gnomad4 EAS AF: 0.300

Gnomad4 SAS AF: 0.182

Gnomad4 FIN AF: 0.166

Gnomad4 NFE AF: 0.176

Gnomad4 OTH AF: 0.125

Alfa AF: 0.154 Hom.: 2155

Bravo AF: 0.122

Asia WGS AF: 0.191 AC: 663 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.29
Cadd	Benign	15
Dann	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9360055; hg19: chr6-94940269;