9-128423153-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016174.5(CERCAM):c.316C>T(p.Pro106Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,613,866 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016174.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CERCAM | NM_016174.5 | c.316C>T | p.Pro106Ser | missense_variant | Exon 3 of 13 | ENST00000372838.9 | NP_057258.3 | |
CERCAM | NM_001286760.1 | c.82C>T | p.Pro28Ser | missense_variant | Exon 3 of 13 | NP_001273689.1 | ||
CERCAM | XM_011518763.4 | c.82C>T | p.Pro28Ser | missense_variant | Exon 3 of 13 | XP_011517065.1 | ||
CERCAM | XM_047423450.1 | c.82C>T | p.Pro28Ser | missense_variant | Exon 4 of 14 | XP_047279406.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251320Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135842
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461688Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727156
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.316C>T (p.P106S) alteration is located in exon 3 (coding exon 3) of the CERCAM gene. This alteration results from a C to T substitution at nucleotide position 316, causing the proline (P) at amino acid position 106 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