rs138444697
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_207352.4(CYP4V2):c.1198C>A(p.Arg400Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,894 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R400C) has been classified as Likely pathogenic.
Frequency
Consequence
NM_207352.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP4V2 | NM_207352.4 | c.1198C>A | p.Arg400Ser | missense_variant | 9/11 | ENST00000378802.5 | |
CYP4V2 | XM_005262935.5 | c.1198C>A | p.Arg400Ser | missense_variant | 9/11 | ||
CYP4V2 | XM_047450077.1 | c.802C>A | p.Arg268Ser | missense_variant | 7/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP4V2 | ENST00000378802.5 | c.1198C>A | p.Arg400Ser | missense_variant | 9/11 | 1 | NM_207352.4 | P1 | |
CYP4V2 | ENST00000502665.1 | n.433C>A | non_coding_transcript_exon_variant | 3/5 | 1 | ||||
CYP4V2 | ENST00000507209.5 | n.5896C>A | non_coding_transcript_exon_variant | 4/6 | 1 | ||||
CYP4V2 | ENST00000513354.5 | n.288C>A | non_coding_transcript_exon_variant | 3/5 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251486Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135914
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461894Hom.: 0 Cov.: 38 AF XY: 0.00 AC XY: 0AN XY: 727248
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at