14-24305686-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001393339.1(CIDEB):c.607G>C(p.Ala203Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000179 in 1,614,068 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001393339.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CIDEB | NM_001393339.1 | c.607G>C | p.Ala203Pro | missense_variant | 5/5 | ENST00000554411.6 | |
NOP9 | NM_174913.3 | c.*591C>G | 3_prime_UTR_variant | 10/10 | ENST00000267425.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CIDEB | ENST00000554411.6 | c.607G>C | p.Ala203Pro | missense_variant | 5/5 | 1 | NM_001393339.1 | P1 | |
NOP9 | ENST00000267425.8 | c.*591C>G | 3_prime_UTR_variant | 10/10 | 1 | NM_174913.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000191 AC: 29AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000119 AC: 30AN: 251382Hom.: 0 AF XY: 0.000132 AC XY: 18AN XY: 135880
GnomAD4 exome AF: 0.000178 AC: 260AN: 1461864Hom.: 0 Cov.: 31 AF XY: 0.000172 AC XY: 125AN XY: 727236
GnomAD4 genome ? AF: 0.000191 AC: 29AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 24, 2022 | The c.607G>C (p.A203P) alteration is located in exon 7 (coding exon 5) of the CIDEB gene. This alteration results from a G to C substitution at nucleotide position 607, causing the alanine (A) at amino acid position 203 to be replaced by a proline (P). 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