chr9-128424180-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016174.5(CERCAM):c.469C>T(p.Arg157Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,614,052 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CERCAM | NM_016174.5 | c.469C>T | p.Arg157Trp | missense_variant | Exon 4 of 13 | ENST00000372838.9 | NP_057258.3 | |
CERCAM | NM_001286760.1 | c.235C>T | p.Arg79Trp | missense_variant | Exon 4 of 13 | NP_001273689.1 | ||
CERCAM | XM_011518763.4 | c.235C>T | p.Arg79Trp | missense_variant | Exon 4 of 13 | XP_011517065.1 | ||
CERCAM | XM_047423450.1 | c.235C>T | p.Arg79Trp | missense_variant | Exon 5 of 14 | XP_047279406.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251408Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135874
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461852Hom.: 0 Cov.: 34 AF XY: 0.0000165 AC XY: 12AN XY: 727238
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.469C>T (p.R157W) alteration is located in exon 4 (coding exon 4) of the CERCAM gene. This alteration results from a C to T substitution at nucleotide position 469, causing the arginine (R) at amino acid position 157 to be replaced by a tryptophan (W). 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