5-75374136-CTTTT-CTT
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_001379004.1(CERT1):c.1723_1724delAA(p.Lys575AlafsTer26) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 31)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
CERT1
NM_001379004.1 frameshift
NM_001379004.1 frameshift
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.786
Genes affected
CERT1 (HGNC:2205): (ceramide transporter 1) This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 4 ACMG points.
PVS1
Loss of function variant, product does not undergo nonsense mediated mRNA decay. Variant is located in the 3'-most exon, not predicted to undergo nonsense mediated mRNA decay. Fraction of 0.0523 CDS is truncated, and there are 0 pathogenic variants in the truncated region.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CERT1 | NM_001379004.1 | c.1723_1724delAA | p.Lys575AlafsTer26 | frameshift_variant | Exon 16 of 16 | NP_001365933.1 | ||
CERT1 | XM_011543090.4 | c.1801_1802delAA | p.Lys601AlafsTer26 | frameshift_variant | Exon 17 of 17 | XP_011541392.1 | ||
CERT1 | NM_001130105.1 | c.*63_*64delAA | 3_prime_UTR_variant | Exon 19 of 19 | NP_001123577.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CERT1 | ENST00000261415.12 | c.*9+5199_*9+5200delAA | intron_variant | Intron 17 of 17 | 1 | ENSP00000261415.8 | ||||
CERT1 | ENST00000642556.1 | c.1723_1724delAA | p.Lys575AlafsTer26 | frameshift_variant | Exon 16 of 16 | ENSP00000496016.1 | ||||
CERT1 | ENST00000644072 | c.*63_*64delAA | 3_prime_UTR_variant | Exon 18 of 18 | ENSP00000494110.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 genomes
Cov.:
31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 207512Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 105480
GnomAD4 exome
Data not reliable, filtered out with message: AC0
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GnomAD4 genome Cov.: 31
GnomAD4 genome
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31
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ClinVar
Not reported inComputational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at