rs11650083
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_053051.5(CNTROB):c.1733C>A(p.Pro578Gln) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.497 in 1,604,892 control chromosomes in the GnomAD database, including 203,968 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_053051.5 missense, splice_region
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 | UniProt |
---|---|---|---|---|---|---|---|
CNTROB | NM_053051.5 | c.1733C>A | p.Pro578Gln | missense_variant, splice_region_variant | 12/19 | ENST00000563694.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNTROB | ENST00000563694.6 | c.1733C>A | p.Pro578Gln | missense_variant, splice_region_variant | 12/19 | 1 | NM_053051.5 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.497 AC: 75543AN: 151902Hom.: 19327 Cov.: 32
GnomAD3 exomes AF: 0.555 AC: 137342AN: 247276Hom.: 40263 AF XY: 0.557 AC XY: 74569AN XY: 133838
GnomAD4 exome AF: 0.496 AC: 721250AN: 1452872Hom.: 184618 Cov.: 49 AF XY: 0.502 AC XY: 362370AN XY: 721620
GnomAD4 genome ? AF: 0.497 AC: 75611AN: 152020Hom.: 19350 Cov.: 32 AF XY: 0.508 AC XY: 37735AN XY: 74308
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at