rs6782264
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NR_021485.2(EGFEM1P):n.852+14876C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0224 in 151,996 control chromosomes in the GnomAD database, including 58 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 0.022 ( 58 hom., cov: 32)
Consequence
EGFEM1P
NR_021485.2 intron, non_coding_transcript
NR_021485.2 intron, non_coding_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.186
Genes affected
EGFEM1P (HGNC:25149): (EGF like and EMI domain containing 1, pseudogene)
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0224 (3402/151996) while in subpopulation AFR AF= 0.0516 (2139/41474). AF 95% confidence interval is 0.0498. There are 58 homozygotes in gnomad4. There are 1587 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 58 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EGFEM1P | NR_021485.2 | n.852+14876C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EGFEM1P | ENST00000431685.2 | n.424-110733C>T | intron_variant, non_coding_transcript_variant | ||||||
ENST00000506760.2 | n.34+14876C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0224 AC: 3405AN: 151878Hom.: 58 Cov.: 32
GnomAD3 genomes
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3405
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0224 AC: 3402AN: 151996Hom.: 58 Cov.: 32 AF XY: 0.0214 AC XY: 1587AN XY: 74288
GnomAD4 genome
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3402
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32
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1587
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74288
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3454
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at