8-143598012-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032862.5(TIGD5):c.109C>T(p.Pro37Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000028 in 1,284,388 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_032862.5 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIGD5 | NM_032862.5 | c.109C>T | p.Pro37Ser | missense_variant | 1/1 | ENST00000504548.4 | NP_116251.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TIGD5 | ENST00000504548.4 | c.109C>T | p.Pro37Ser | missense_variant | 1/1 | NM_032862.5 | ENSP00000421489 | P1 | ||
EEF1D | ENST00000533749.5 | c.41+1269G>A | intron_variant | 5 | ENSP00000431933 |
Frequencies
GnomAD3 genomes AF: 0.0000607 AC: 9AN: 148272Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000238 AC: 27AN: 1136116Hom.: 0 Cov.: 30 AF XY: 0.0000311 AC XY: 17AN XY: 547100
GnomAD4 genome AF: 0.0000607 AC: 9AN: 148272Hom.: 0 Cov.: 32 AF XY: 0.0000968 AC XY: 7AN XY: 72332
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 01, 2022 | The c.109C>T (p.P37S) alteration is located in exon 1 (coding exon 1) of the TIGD5 gene. This alteration results from a C to T substitution at nucleotide position 109, causing the proline (P) at amino acid position 37 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