chr4-47600233-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PP3_Strong
The NM_006587.4(CORIN):c.2927G>A(p.Gly976Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,612,900 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006587.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CORIN | NM_006587.4 | c.2927G>A | p.Gly976Asp | missense_variant | Exon 21 of 22 | ENST00000273857.9 | NP_006578.2 | |
CORIN | NM_001278585.2 | c.2615G>A | p.Gly872Asp | missense_variant | Exon 19 of 20 | NP_001265514.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152136Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460764Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726600
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74316
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.2927G>A (p.G976D) alteration is located in exon 21 (coding exon 21) of the CORIN gene. This alteration results from a G to A substitution at nucleotide position 2927, causing the glycine (G) at amino acid position 976 to be replaced by an aspartic acid (D). 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