14-23319887-C-CTT
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_001387343.1(BCL2L2-PABPN1):c.528+58_528+59dup variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.918 in 1,011,254 control chromosomes in the GnomAD database, including 427,549 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.92 ( 65086 hom., cov: 0)
Exomes 𝑓: 0.92 ( 362463 hom. )
Consequence
BCL2L2-PABPN1
NM_001387343.1 intron
NM_001387343.1 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 1.53
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
?
Variant 14-23319887-C-CTT is Benign according to our data. Variant chr14-23319887-C-CTT is described in ClinVar as [Benign]. Clinvar id is 1261404.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.924 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BCL2L2-PABPN1 | NM_001387343.1 | c.528+58_528+59dup | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.924 AC: 140534AN: 152090Hom.: 65029 Cov.: 0
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GnomAD4 exome AF: 0.917 AC: 787588AN: 859046Hom.: 362463 AF XY: 0.911 AC XY: 392754AN XY: 430980
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GnomAD4 genome ? AF: 0.924 AC: 140649AN: 152208Hom.: 65086 Cov.: 0 AF XY: 0.924 AC XY: 68748AN XY: 74404
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 24, 2021 | - - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at