rs78781527
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001102401.4(TTI2):c.118C>T(p.Pro40Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00708 in 1,614,082 control chromosomes in the GnomAD database, including 61 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P40L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001102401.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTI2 | NM_001102401.4 | c.118C>T | p.Pro40Ser | missense_variant | 2/8 | ENST00000431156.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTI2 | ENST00000431156.7 | c.118C>T | p.Pro40Ser | missense_variant | 2/8 | 1 | NM_001102401.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00498 AC: 758AN: 152082Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.00472 AC: 1187AN: 251382Hom.: 6 AF XY: 0.00480 AC XY: 652AN XY: 135910
GnomAD4 exome AF: 0.00730 AC: 10668AN: 1461882Hom.: 60 Cov.: 34 AF XY: 0.00714 AC XY: 5192AN XY: 727242
GnomAD4 genome ? AF: 0.00499 AC: 759AN: 152200Hom.: 1 Cov.: 31 AF XY: 0.00437 AC XY: 325AN XY: 74398
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2024 | TTI2: BP4, BS2 - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Dec 16, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at