7-44782138-A-G

Variant names:

• chr7-44782138-A-G
• rs7785231

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 8 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.821 AC: 34042 AN: 41454

American (AMR) AF: 0.768 AC: 11711 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.655 AC: 2275 AN: 3472

East Asian (EAS) AF: 0.979 AC: 5044 AN: 5152

South Asian (SAS) AF: 0.661 AC: 3175 AN: 4800

European-Finnish (FIN) AF: 0.665 AC: 7019 AN: 10550

Middle Eastern (MID) AF: 0.694 AC: 204 AN: 294

European-Non Finnish (NFE) AF: 0.633 AC: 42977 AN: 67932

Other (OTH) AF: 0.710 AC: 1496 AN: 2106

Alfa AF: 0.657 Hom.: 22873

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
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs7785231; hg19: chr7-44821737;