NM_174937.4:c.1331C>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_174937.4(TCERG1L):c.1331C>T(p.Pro444Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000579 in 1,589,988 control chromosomes in the GnomAD database, including 1 homozygotes. 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_174937.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152132Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000657 AC: 14AN: 213042Hom.: 0 AF XY: 0.0000786 AC XY: 9AN XY: 114494
GnomAD4 exome AF: 0.0000584 AC: 84AN: 1437856Hom.: 1 Cov.: 33 AF XY: 0.0000617 AC XY: 44AN XY: 712982
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152132Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1331C>T (p.P444L) alteration is located in exon 9 (coding exon 9) of the TCERG1L gene. This alteration results from a C to T substitution at nucleotide position 1331, causing the proline (P) at amino acid position 444 to be replaced by a leucine (L). 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