chr10-129840261-G-A
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Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_001375380.1(EBF3):c.1743C>T(p.Asn581=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000843 in 1,530,460 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.000066 ( 0 hom., cov: 33)
Exomes 𝑓: 0.000086 ( 1 hom. )
Consequence
EBF3
NM_001375380.1 synonymous
NM_001375380.1 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.498
Genes affected
EBF3 (HGNC:19087): (EBF transcription factor 3) This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -15 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.5).
BP6
Variant 10-129840261-G-A is Benign according to our data. Variant chr10-129840261-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 755545.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=0.498 with no splicing effect.
BS1
Variant frequency is greater than expected in population amr. gnomad4 allele frequency = 0.0000663 (10/150916) while in subpopulation AMR AF= 0.000132 (2/15178). AF 95% confidence interval is 0.0000476. There are 0 homozygotes in gnomad4. There are 5 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
BS2
High AC in GnomAd4 at 10 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EBF3 | NM_001375380.1 | c.1743C>T | p.Asn581= | synonymous_variant | 15/17 | ENST00000440978.2 | NP_001362309.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EBF3 | ENST00000440978.2 | c.1743C>T | p.Asn581= | synonymous_variant | 15/17 | 3 | NM_001375380.1 | ENSP00000387543 | ||
EBF3 | ENST00000368648.8 | c.1608C>T | p.Asn536= | synonymous_variant | 16/17 | 1 | ENSP00000357637 | A1 | ||
EBF3 | ENST00000355311.10 | c.1743C>T | p.Asn581= | synonymous_variant | 15/16 | 5 | ENSP00000347463 | P4 | ||
EBF3 | ENST00000675373.1 | n.1280C>T | non_coding_transcript_exon_variant | 12/14 |
Frequencies
GnomAD3 genomes AF: 0.0000663 AC: 10AN: 150916Hom.: 0 Cov.: 33
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GnomAD3 exomes AF: 0.0000961 AC: 19AN: 197612Hom.: 0 AF XY: 0.000123 AC XY: 13AN XY: 105426
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GnomAD4 exome AF: 0.0000863 AC: 119AN: 1379544Hom.: 1 Cov.: 37 AF XY: 0.0000996 AC XY: 68AN XY: 682560
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GnomAD4 genome AF: 0.0000663 AC: 10AN: 150916Hom.: 0 Cov.: 33 AF XY: 0.0000678 AC XY: 5AN XY: 73734
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jul 26, 2018 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at