18-44105760-T-G

Variant names:

• chr18-44105760-T-G
• rs6507566

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 0.687 in 151,988 control chromosomes in the GnomAD database, including 36,186 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 0.69 (36186 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.77

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.88 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: 0.687 AC: 104382 AN: 151870 Hom.: 36145 Cov.: 31

Gnomad AFR AF: 0.649

Gnomad AMI AF: 0.534

Gnomad AMR AF: 0.786

Gnomad ASJ AF: 0.665

Gnomad EAS AF: 0.901

Gnomad SAS AF: 0.730

Gnomad FIN AF: 0.696

Gnomad MID AF: 0.835

Gnomad NFE AF: 0.670

Gnomad OTH AF: 0.698

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

GnomAD4 genome AF: 0.687 AC: 104471 AN: 151988 Hom.: 36186 Cov.: 31 AF XY: 0.692 AC XY: 51419 AN XY: 74252

Gnomad4 AFR AF: 0.649

Gnomad4 AMR AF: 0.787

Gnomad4 ASJ AF: 0.665

Gnomad4 EAS AF: 0.901

Gnomad4 SAS AF: 0.730

Gnomad4 FIN AF: 0.696

Gnomad4 NFE AF: 0.670

Gnomad4 OTH AF: 0.702

Alfa AF: 0.673 Hom.: 4730

Bravo AF: 0.694

Asia WGS AF: 0.773 AC: 2688 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.1
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6507566; hg19: chr18-41685725;