chr4-47595795-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_006587.4(CORIN):c.3055G>A(p.Val1019Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000205 in 1,613,468 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1019A) has been classified as Uncertain significance.
Frequency
Consequence
NM_006587.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CORIN | NM_006587.4 | c.3055G>A | p.Val1019Ile | missense_variant | Exon 22 of 22 | ENST00000273857.9 | NP_006578.2 | |
CORIN | NM_001278585.2 | c.2743G>A | p.Val915Ile | missense_variant | Exon 20 of 20 | NP_001265514.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152112Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 250878Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135586
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461356Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 726986
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74298
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.3055G>A (p.V1019I) alteration is located in exon 22 (coding exon 22) of the CORIN gene. This alteration results from a G to A substitution at nucleotide position 3055, causing the valine (V) at amino acid position 1019 to be replaced by an isoleucine (I). 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