rs2230500
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006255.5(PRKCH):c.1120G>A(p.Val374Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0181 in 1,614,004 control chromosomes in the GnomAD database, including 1,583 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars).
Frequency
Consequence
NM_006255.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRKCH | NM_006255.5 | c.1120G>A | p.Val374Ile | missense_variant | 9/14 | ENST00000332981.11 | NP_006246.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRKCH | ENST00000332981.11 | c.1120G>A | p.Val374Ile | missense_variant | 9/14 | 1 | NM_006255.5 | ENSP00000329127.5 |
Frequencies
GnomAD3 genomes AF: 0.0187 AC: 2851AN: 152116Hom.: 188 Cov.: 32
GnomAD3 exomes AF: 0.0308 AC: 7738AN: 251296Hom.: 678 AF XY: 0.0299 AC XY: 4064AN XY: 135806
GnomAD4 exome AF: 0.0180 AC: 26311AN: 1461768Hom.: 1393 Cov.: 32 AF XY: 0.0177 AC XY: 12888AN XY: 727184
GnomAD4 genome AF: 0.0187 AC: 2854AN: 152236Hom.: 190 Cov.: 32 AF XY: 0.0211 AC XY: 1568AN XY: 74428
ClinVar
Submissions by phenotype
Cerebral infarction, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Feb 01, 2007 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at