rs494553
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014956.5(CEP164):c.2205C>A(p.Ser735Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S735S) has been classified as Benign.
Frequency
Consequence
NM_014956.5 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 |
---|---|---|---|---|---|---|---|
CEP164 | NM_014956.5 | c.2205C>A | p.Ser735Arg | missense_variant | 17/33 | ENST00000278935.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP164 | ENST00000278935.8 | c.2205C>A | p.Ser735Arg | missense_variant | 17/33 | 1 | NM_014956.5 | P1 | |
CEP164 | ENST00000533223.1 | n.3087C>A | non_coding_transcript_exon_variant | 3/16 | 1 | ||||
CEP164 | ENST00000533675.5 | n.2313C>A | non_coding_transcript_exon_variant | 12/27 | 2 | ||||
CEP164 | ENST00000533706.5 | n.1529C>A | non_coding_transcript_exon_variant | 10/27 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at