10-58277241-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018464.5(CISD1):c.156C>A(p.Asp52Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018464.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CISD1 | NM_018464.5 | c.156C>A | p.Asp52Glu | missense_variant | Exon 2 of 3 | ENST00000333926.6 | NP_060934.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CISD1 | ENST00000333926.6 | c.156C>A | p.Asp52Glu | missense_variant | Exon 2 of 3 | 1 | NM_018464.5 | ENSP00000363041.4 | ||
CISD1 | ENST00000464703.5 | n.347C>A | non_coding_transcript_exon_variant | Exon 3 of 5 | 5 | |||||
CISD1 | ENST00000488388.2 | n.177C>A | non_coding_transcript_exon_variant | Exon 2 of 4 | 5 | |||||
CISD1 | ENST00000489785.5 | n.224C>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.156C>A (p.D52E) alteration is located in exon 2 (coding exon 2) of the CISD1 gene. This alteration results from a C to A substitution at nucleotide position 156, causing the aspartic acid (D) at amino acid position 52 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.