rs561677923
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001143980.3(CCDC154):c.1474G>T(p.Glu492*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000501 in 1,396,256 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. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001143980.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC154 | ENST00000389176.4 | c.1474G>T | p.Glu492* | stop_gained | Exon 13 of 17 | 5 | NM_001143980.3 | ENSP00000373828.4 | ||
CCDC154 | ENST00000409671.5 | c.1039G>T | p.Glu347* | stop_gained | Exon 12 of 16 | 1 | ENSP00000386744.1 | |||
CCDC154 | ENST00000483702.5 | n.271G>T | non_coding_transcript_exon_variant | Exon 3 of 6 | 3 | ENSP00000456484.1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000647 AC: 1AN: 154512Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82120
GnomAD4 exome AF: 0.00000501 AC: 7AN: 1396256Hom.: 0 Cov.: 33 AF XY: 0.00000290 AC XY: 2AN XY: 688712
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at