14-77114260-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_033426.3(CIPC):c.1142C>G(p.Pro381Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000104 in 1,613,934 control chromosomes in the GnomAD database, including 1 homozygotes. 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P381A) has been classified as Uncertain significance.
Frequency
Consequence
NM_033426.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CIPC | NM_033426.3 | c.1142C>G | p.Pro381Arg | missense_variant | 4/4 | ENST00000361786.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CIPC | ENST00000361786.7 | c.1142C>G | p.Pro381Arg | missense_variant | 4/4 | 1 | NM_033426.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000158 AC: 24AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000148 AC: 37AN: 250774Hom.: 0 AF XY: 0.000177 AC XY: 24AN XY: 135574
GnomAD4 exome AF: 0.0000985 AC: 144AN: 1461756Hom.: 1 Cov.: 31 AF XY: 0.000100 AC XY: 73AN XY: 727194
GnomAD4 genome ? AF: 0.000158 AC: 24AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 15, 2021 | The c.1142C>G (p.P381R) alteration is located in exon 4 (coding exon 3) of the CIPC gene. This alteration results from a C to G substitution at nucleotide position 1142, causing the proline (P) at amino acid position 381 to be replaced by an arginine (R). 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