chr7-155827039-A-G

Position:

• chr7-155827039-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 0.768 in 151,812 control chromosomes in the GnomAD database, including 45,305 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 0.77 (45305 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.50

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.968 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: 0.768 AC: 116528 AN: 151696 Hom.: 45242 Cov.: 30

Gnomad AFR AF: 0.841

Gnomad AMI AF: 0.814

Gnomad AMR AF: 0.751

Gnomad ASJ AF: 0.698

Gnomad EAS AF: 0.990

Gnomad SAS AF: 0.902

Gnomad FIN AF: 0.686

Gnomad MID AF: 0.728

Gnomad NFE AF: 0.718

Gnomad OTH AF: 0.744

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

GnomAD4 genome AF: 0.768 AC: 116649 AN: 151812 Hom.: 45305 Cov.: 30 AF XY: 0.768 AC XY: 56942 AN XY: 74174

Gnomad4 AFR AF: 0.841

Gnomad4 AMR AF: 0.751

Gnomad4 ASJ AF: 0.698

Gnomad4 EAS AF: 0.990

Gnomad4 SAS AF: 0.902

Gnomad4 FIN AF: 0.686

Gnomad4 NFE AF: 0.718

Gnomad4 OTH AF: 0.747

Alfa AF: 0.727 Hom.: 56361

Bravo AF: 0.775

Asia WGS AF: 0.929 AC: 3230 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.14
DANN	Benign	0.21

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs167020; hg19: chr7-155619733;