7-44132679-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 0.479 in 151,650 control chromosomes in the GnomAD database, including 17,768 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 0.48 (17768 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.654 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: 0.479 AC: 72629 AN: 151536 Hom.: 17755 Cov.: 34

Gnomad AFR AF: 0.386

Gnomad AMI AF: 0.468

Gnomad AMR AF: 0.463

Gnomad ASJ AF: 0.560

Gnomad EAS AF: 0.411

Gnomad SAS AF: 0.673

Gnomad FIN AF: 0.565

Gnomad MID AF: 0.503

Gnomad NFE AF: 0.514

Gnomad OTH AF: 0.461

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

GnomAD4 genome AF: 0.479 AC: 72676 AN: 151650 Hom.: 17768 Cov.: 34 AF XY: 0.484 AC XY: 35853 AN XY: 74138

Gnomad4 AFR AF: 0.386

Gnomad4 AMR AF: 0.464

Gnomad4 ASJ AF: 0.560

Gnomad4 EAS AF: 0.411

Gnomad4 SAS AF: 0.673

Gnomad4 FIN AF: 0.565

Gnomad4 NFE AF: 0.514

Gnomad4 OTH AF: 0.460

Alfa AF: 0.500 Hom.: 2781

Bravo AF: 0.458

Asia WGS AF: 0.533 AC: 1850 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	0.29
Dann	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2537184; hg19: chr7-44172278;