7-155066442-A-G

Variant names:

• chr7-155066442-A-G
• rs2919435

Variant summary

Our verdict is Likely benign. The variant received -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
• Publications: 6 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

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

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.414 AC: 57128 AN: 137930 Hom.: 14534 Cov.: 24

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

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.149 AC: 5775 AN: 38724

American (AMR) AF: 0.416 AC: 5362 AN: 12888

Ashkenazi Jewish (ASJ) AF: 0.561 AC: 1803 AN: 3212

East Asian (EAS) AF: 0.129 AC: 615 AN: 4770

South Asian (SAS) AF: 0.409 AC: 1687 AN: 4120

European-Finnish (FIN) AF: 0.418 AC: 3560 AN: 8514

Middle Eastern (MID) AF: 0.526 AC: 143 AN: 272

European-Non Finnish (NFE) AF: 0.589 AC: 36996 AN: 62860

Other (OTH) AF: 0.425 AC: 792 AN: 1864

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.542 Hom.: 38029

Bravo AF: 0.410

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.2
DANN	Benign	0.68
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs2919435; hg19: chr7-154858152;