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).

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: 0.414 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 v4.3

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;