22-19089536-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005137.3(DGCR2):c.80-46G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.917 in 1,470,086 control chromosomes in the GnomAD database, including 619,209 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 0.93 ( 65954 hom., cov: 34)
Exomes 𝑓: 0.92 ( 553255 hom. )
Consequence
DGCR2
NM_005137.3 intron
NM_005137.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.43
Genes affected
DGCR2 (HGNC:2845): (DiGeorge syndrome critical region gene 2) Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
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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=-0.9).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.974 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DGCR2 | NM_005137.3 | c.80-46G>A | intron_variant | ENST00000263196.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DGCR2 | ENST00000263196.12 | c.80-46G>A | intron_variant | 1 | NM_005137.3 | P1 | |||
DGCR2 | ENST00000389262.8 | c.80-46G>A | intron_variant, NMD_transcript_variant | 1 | |||||
DGCR2 | ENST00000537045.5 | c.80-21311G>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.930 AC: 141505AN: 152202Hom.: 65903 Cov.: 34
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GnomAD3 exomes AF: 0.914 AC: 153855AN: 168254Hom.: 70459 AF XY: 0.915 AC XY: 83194AN XY: 90928
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GnomAD4 exome AF: 0.916 AC: 1207009AN: 1317766Hom.: 553255 Cov.: 32 AF XY: 0.917 AC XY: 592819AN XY: 646302
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GnomAD4 genome ? AF: 0.930 AC: 141613AN: 152320Hom.: 65954 Cov.: 34 AF XY: 0.928 AC XY: 69131AN XY: 74470
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
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