1-225921194-C-T
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_013328.4(PYCR2):c.797+14G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.154 in 1,606,882 control chromosomes in the GnomAD database, including 21,299 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.17 ( 2485 hom., cov: 32)
Exomes 𝑓: 0.15 ( 18814 hom. )
Consequence
PYCR2
NM_013328.4 intron
NM_013328.4 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -2.15
Genes affected
PYCR2 (HGNC:30262): (pyrroline-5-carboxylate reductase 2) This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BP6
Variant 1-225921194-C-T is Benign according to our data. Variant chr1-225921194-C-T is described in ClinVar as [Benign]. Clinvar id is 1166899.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.326 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PYCR2 | NM_013328.4 | c.797+14G>A | intron_variant | ENST00000343818.11 | NP_037460.2 | |||
PYCR2 | NM_001271681.2 | c.575+14G>A | intron_variant | NP_001258610.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PYCR2 | ENST00000343818.11 | c.797+14G>A | intron_variant | 1 | NM_013328.4 | ENSP00000342502 | P1 |
Frequencies
GnomAD3 genomes AF: 0.175 AC: 26542AN: 151954Hom.: 2472 Cov.: 32
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GnomAD3 exomes AF: 0.193 AC: 47346AN: 245590Hom.: 5099 AF XY: 0.192 AC XY: 25444AN XY: 132754
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GnomAD4 exome AF: 0.152 AC: 221528AN: 1454812Hom.: 18814 Cov.: 32 AF XY: 0.155 AC XY: 112308AN XY: 723488
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GnomAD4 genome AF: 0.175 AC: 26589AN: 152070Hom.: 2485 Cov.: 32 AF XY: 0.179 AC XY: 13279AN XY: 74316
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ClinVar
Significance: Benign
Submissions summary: Benign:4
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 18, 2020 | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 30, 2024 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Hypomyelinating leukodystrophy 10 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Nov 07, 2021 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
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DANN
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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