rs1436818

Positions:

• chr7-155093527-A-G
• chr7-155093527-A-T

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 0.691 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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

Gnomad4 AFR AF: 0.838

Gnomad4 AMR AF: 0.668

Gnomad4 ASJ AF: 0.648

Gnomad4 EAS AF: 0.615

Gnomad4 SAS AF: 0.626

Gnomad4 FIN AF: 0.579

Gnomad4 NFE AF: 0.642

Gnomad4 OTH AF: 0.671

Alfa AF: 0.648 Hom.: 33597

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1436818; hg19: chr7-154885237;