chr12-25121875-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018272.5(DNAI7):c.1117G>C(p.Asp373His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000377 in 1,591,882 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018272.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAI7 | NM_018272.5 | c.1117G>C | p.Asp373His | missense_variant | 11/16 | ENST00000395987.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAI7 | ENST00000395987.8 | c.1117G>C | p.Asp373His | missense_variant | 11/16 | 1 | NM_018272.5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152204Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000877 AC: 2AN: 227962Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 123648
GnomAD4 exome AF: 0.00000278 AC: 4AN: 1439678Hom.: 0 Cov.: 29 AF XY: 0.00000279 AC XY: 2AN XY: 716036
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152204Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 27, 2024 | The c.1117G>C (p.D373H) alteration is located in exon 11 (coding exon 11) of the CASC1 gene. This alteration results from a G to C substitution at nucleotide position 1117, causing the aspartic acid (D) at amino acid position 373 to be replaced by a histidine (H). 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