chr13-76992023-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000636183(CLN5):c.-76A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0485 in 1,606,282 control chromosomes in the GnomAD database, including 3,068 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
ENST00000636183 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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CLN5 | ENST00000636183 | c.-76A>G | 5_prime_UTR_variant | Exon 1 of 4 | 1 | ENSP00000490181.2 | ||||
CLN5 | ENST00000636780.2 | c.-76A>G | upstream_gene_variant | 5 | ENSP00000489809.2 | |||||
CLN5 | ENST00000485938.4 | c.-76A>G | upstream_gene_variant | 2 | ENSP00000482959.3 |
Frequencies
GnomAD3 genomes AF: 0.0820 AC: 12477AN: 152126Hom.: 788 Cov.: 33
GnomAD3 exomes AF: 0.0717 AC: 15940AN: 222188Hom.: 850 AF XY: 0.0638 AC XY: 7878AN XY: 123470
GnomAD4 exome AF: 0.0450 AC: 65399AN: 1454040Hom.: 2283 Cov.: 35 AF XY: 0.0441 AC XY: 31855AN XY: 723108
GnomAD4 genome AF: 0.0821 AC: 12499AN: 152242Hom.: 785 Cov.: 33 AF XY: 0.0827 AC XY: 6156AN XY: 74444
ClinVar
Submissions by phenotype
not specified Benign:6
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. -
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This variant is classified as Benign based on local population frequency. This variant was detected in 24% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 22. Only high quality variants are reported. -
not provided Benign:3
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Neuronal ceroid lipofuscinosis 5 Benign:2
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
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Neuronal ceroid lipofuscinosis Benign:2
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Inborn genetic diseases Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at