17-38731353-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001136498.2(CISD3):c.118G>A(p.Val40Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000503 in 1,551,574 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001136498.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CISD3 | ENST00000613478.2 | c.118G>A | p.Val40Met | missense_variant | Exon 3 of 4 | 2 | NM_001136498.2 | ENSP00000483781.1 | ||
CISD3 | ENST00000619858.1 | n.471G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 1 | |||||
CISD3 | ENST00000616128.1 | n.247G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000389 AC: 6AN: 154100Hom.: 0 AF XY: 0.0000489 AC XY: 4AN XY: 81764
GnomAD4 exome AF: 0.0000493 AC: 69AN: 1399322Hom.: 0 Cov.: 31 AF XY: 0.0000493 AC XY: 34AN XY: 690180
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152252Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.118G>A (p.V40M) alteration is located in exon 3 (coding exon 3) of the CISD3 gene. This alteration results from a G to A substitution at nucleotide position 118, causing the valine (V) at amino acid position 40 to be replaced by a methionine (M). 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