3-46922254-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001277074.2(CCDC12):c.400G>T(p.Ala134Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001277074.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCDC12 | NM_001277074.2 | c.400G>T | p.Ala134Ser | missense_variant | Exon 6 of 7 | ENST00000683445.1 | NP_001264003.1 | |
CCDC12 | NM_144716.6 | c.439G>T | p.Ala147Ser | missense_variant | Exon 7 of 8 | NP_653317.2 | ||
CCDC12 | NR_102269.2 | n.453G>T | non_coding_transcript_exon_variant | Exon 6 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC12 | ENST00000683445.1 | c.400G>T | p.Ala134Ser | missense_variant | Exon 6 of 7 | NM_001277074.2 | ENSP00000508011.1 | |||
CCDC12 | ENST00000292314.6 | c.439G>T | p.Ala147Ser | missense_variant | Exon 7 of 8 | 5 | ENSP00000292314.2 | |||
CCDC12 | ENST00000425441.5 | c.400G>T | p.Ala134Ser | missense_variant | Exon 8 of 9 | 5 | ENSP00000416263.2 | |||
CCDC12 | ENST00000604367.1 | n.1906G>T | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.439G>T (p.A147S) alteration is located in exon 6 (coding exon 6) of the CCDC12 gene. This alteration results from a G to T substitution at nucleotide position 439, causing the alanine (A) at amino acid position 147 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.