rs55716270
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_014844.5(TECPR2):c.952-5G>A variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00579 in 592,238 control chromosomes in the GnomAD database, including 30 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_014844.5 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TECPR2 | NM_014844.5 | c.952-5G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000359520.12 | |||
TECPR2 | NM_001172631.3 | c.952-5G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TECPR2 | ENST00000359520.12 | c.952-5G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_014844.5 | P1 | |||
TECPR2 | ENST00000558678.1 | c.952-5G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00849 AC: 226AN: 26624Hom.: 0 Cov.: 0
GnomAD3 exomes AF: 0.00348 AC: 76AN: 21844Hom.: 3 AF XY: 0.00400 AC XY: 48AN XY: 11990
GnomAD4 exome AF: 0.00566 AC: 3204AN: 565598Hom.: 30 Cov.: 17 AF XY: 0.00541 AC XY: 1489AN XY: 275256
GnomAD4 genome ? AF: 0.00848 AC: 226AN: 26640Hom.: 0 Cov.: 0 AF XY: 0.00797 AC XY: 102AN XY: 12790
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 14, 2020 | - - |
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Dec 01, 2023 | TECPR2: BP4, BS2 - |
Hereditary spastic paraplegia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genome Diagnostics Laboratory, The Hospital for Sick Children | Aug 16, 2021 | - - |
TECPR2-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 12, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Hereditary spastic paraplegia 49 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at