chr7-155093527-A-G

Variant names:

• chr7-155093527-A-G
• rs1436818

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 0.691 in 151,138 control chromosomes in the GnomAD database, including 36,866 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 (36866 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.16
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.831 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: 0.691 AC: 104404 AN: 151024 Hom.: 36827 Cov.: 31

Gnomad AFR AF: 0.838

Gnomad AMI AF: 0.560

Gnomad AMR AF: 0.668

Gnomad ASJ AF: 0.648

Gnomad EAS AF: 0.614

Gnomad SAS AF: 0.627

Gnomad FIN AF: 0.579

Gnomad MID AF: 0.649

Gnomad NFE AF: 0.641

Gnomad OTH AF: 0.679

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

GnomAD4 genome AF: 0.691 AC: 104487 AN: 151138 Hom.: 36866 Cov.: 31 AF XY: 0.688 AC XY: 50803 AN XY: 73870

African (AFR) AF: 0.838 AC: 34040 AN: 40622

American (AMR) AF: 0.668 AC: 10195 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.648 AC: 2245 AN: 3464

East Asian (EAS) AF: 0.615 AC: 3176 AN: 5168

South Asian (SAS) AF: 0.626 AC: 3007 AN: 4800

European-Finnish (FIN) AF: 0.579 AC: 6099 AN: 10526

Middle Eastern (MID) AF: 0.633 AC: 186 AN: 294

European-Non Finnish (NFE) AF: 0.642 AC: 43619 AN: 67994

Other (OTH) AF: 0.671 AC: 1410 AN: 2100

Alfa AF: 0.657 Hom.: 44879

Bravo AF: 0.700

Asia WGS AF: 0.593 AC: 2065 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.96
DANN	Benign	0.56
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs1436818; hg19: chr7-154885237;