7-155066442-A-G

Position:

• chr7-155066442-A-G

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong

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 0.41 (14531 hom., cov: 24)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.118

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).

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: 0.00 AC: 57128 AN: 137930 Hom.: 14534 Cov.: 24 FAILED QC

Gnomad AFR AF: 0.149

Gnomad AMI AF: 0.471

Gnomad AMR AF: 0.416

Gnomad ASJ AF: 0.561

Gnomad EAS AF: 0.130

Gnomad SAS AF: 0.410

Gnomad FIN AF: 0.418

Gnomad MID AF: 0.545

Gnomad NFE AF: 0.589

Gnomad OTH AF: 0.430

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.414 AC: 57119 AN: 138044 Hom.: 14531 Cov.: 24 AF XY: 0.401 AC XY: 26692 AN XY: 66548

Gnomad4 AFR AF: 0.149

Gnomad4 AMR AF: 0.416

Gnomad4 ASJ AF: 0.561

Gnomad4 EAS AF: 0.129

Gnomad4 SAS AF: 0.409

Gnomad4 FIN AF: 0.418

Gnomad4 NFE AF: 0.589

Gnomad4 OTH AF: 0.425

Alfa AF: 0.558 Hom.: 30943

Bravo AF: 0.410

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.2
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2919435; hg19: chr7-154858152;