19-3619166-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001080543.2(CACTIN):c.961G>A(p.Asp321Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000093 in 1,612,294 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D321E) has been classified as Uncertain significance.
Frequency
Consequence
NM_001080543.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CACTIN | NM_001080543.2 | c.961G>A | p.Asp321Asn | missense_variant | Exon 5 of 10 | ENST00000429344.7 | NP_001074012.1 | |
CACTIN | NM_021231.2 | c.961G>A | p.Asp321Asn | missense_variant | Exon 5 of 11 | NP_067054.1 | ||
CACTIN | XM_011528160.3 | c.961G>A | p.Asp321Asn | missense_variant | Exon 5 of 8 | XP_011526462.1 | ||
CACTIN | XM_011528161.3 | c.961G>A | p.Asp321Asn | missense_variant | Exon 5 of 7 | XP_011526463.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152186Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000163 AC: 4AN: 245558Hom.: 0 AF XY: 0.00000748 AC XY: 1AN XY: 133624
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460108Hom.: 0 Cov.: 33 AF XY: 0.00000826 AC XY: 6AN XY: 726182
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152186Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.961G>A (p.D321N) alteration is located in exon 5 (coding exon 5) of the CACTIN gene. This alteration results from a G to A substitution at nucleotide position 961, causing the aspartic acid (D) at amino acid position 321 to be replaced by an asparagine (N). 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