chr4-47600318-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_006587.4(CORIN):c.2842C>T(p.Arg948Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000011 in 1,460,234 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. R948H) 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 -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CORIN | NM_006587.4 | c.2842C>T | p.Arg948Cys | missense_variant | 21/22 | ENST00000273857.9 | |
CORIN | NM_001278585.2 | c.2530C>T | p.Arg844Cys | missense_variant | 19/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CORIN | ENST00000273857.9 | c.2842C>T | p.Arg948Cys | missense_variant | 21/22 | 1 | NM_006587.4 | P2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250854Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135562
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1460234Hom.: 0 Cov.: 30 AF XY: 0.0000124 AC XY: 9AN XY: 726370
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 06, 2023 | The c.2842C>T (p.R948C) alteration is located in exon 21 (coding exon 21) of the CORIN gene. This alteration results from a C to T substitution at nucleotide position 2842, causing the arginine (R) at amino acid position 948 to be replaced by a cysteine (C). 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