7-44782138-A-G

Position:

• chr7-44782138-A-G

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 0.714 in 151,926 control chromosomes in the GnomAD database, including 39,479 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 0.71 (39479 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.366

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.956 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: 0.714 AC: 108392 AN: 151808 Hom.: 39434 Cov.: 29

Gnomad AFR AF: 0.821

Gnomad AMI AF: 0.609

Gnomad AMR AF: 0.767

Gnomad ASJ AF: 0.655

Gnomad EAS AF: 0.979

Gnomad SAS AF: 0.662

Gnomad FIN AF: 0.665

Gnomad MID AF: 0.690

Gnomad NFE AF: 0.633

Gnomad OTH AF: 0.705

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

GnomAD4 genome AF: 0.714 AC: 108497 AN: 151926 Hom.: 39479 Cov.: 29 AF XY: 0.719 AC XY: 53331 AN XY: 74204

Gnomad4 AFR AF: 0.821

Gnomad4 AMR AF: 0.768

Gnomad4 ASJ AF: 0.655

Gnomad4 EAS AF: 0.979

Gnomad4 SAS AF: 0.661

Gnomad4 FIN AF: 0.665

Gnomad4 NFE AF: 0.633

Gnomad4 OTH AF: 0.710

Alfa AF: 0.664 Hom.: 11976

Bravo AF: 0.728

Asia WGS AF: 0.820 AC: 2853 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.4
DANN	Benign	0.44

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7785231; hg19: chr7-44821737;