X-103587114-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001006935.3(TCEAL4):c.439G>A(p.Asp147Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000661 in 1,209,386 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001006935.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TCEAL4 | NM_001006935.3 | c.439G>A | p.Asp147Asn | missense_variant | Exon 3 of 3 | ENST00000472484.6 | NP_001006936.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000448 AC: 5AN: 111704Hom.: 0 Cov.: 23 AF XY: 0.0000295 AC XY: 1AN XY: 33870
GnomAD3 exomes AF: 0.00000550 AC: 1AN: 181871Hom.: 0 AF XY: 0.0000150 AC XY: 1AN XY: 66615
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1097682Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 363138
GnomAD4 genome AF: 0.0000448 AC: 5AN: 111704Hom.: 0 Cov.: 23 AF XY: 0.0000295 AC XY: 1AN XY: 33870
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.439G>A (p.D147N) alteration is located in exon 3 (coding exon 1) of the TCEAL4 gene. This alteration results from a G to A substitution at nucleotide position 439, causing the aspartic acid (D) at amino acid position 147 to be replaced by an asparagine (N). 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