chr11-119107883-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001290474.2(C2CD2L):c.142C>T(p.Pro48Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000448 in 1,517,564 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_001290474.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151726Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.00000898 AC: 1AN: 111378Hom.: 0 AF XY: 0.0000157 AC XY: 1AN XY: 63740
GnomAD4 exome AF: 0.0000476 AC: 65AN: 1365838Hom.: 0 Cov.: 32 AF XY: 0.0000474 AC XY: 32AN XY: 675630
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151726Hom.: 0 Cov.: 30 AF XY: 0.0000270 AC XY: 2AN XY: 74084
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.142C>T (p.P48S) alteration is located in exon 1 (coding exon 1) of the C2CD2L gene. This alteration results from a C to T substitution at nucleotide position 142, causing the proline (P) at amino acid position 48 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