17-6642308-T-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_032731.4(TXNDC17):c.287T>C(p.Leu96Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000619 in 1,454,926 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032731.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TXNDC17 | NM_032731.4 | c.287T>C | p.Leu96Pro | missense_variant | Exon 3 of 4 | ENST00000250101.10 | NP_116120.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247266Hom.: 0 AF XY: 0.00000749 AC XY: 1AN XY: 133592
GnomAD4 exome AF: 0.00000619 AC: 9AN: 1454926Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 2AN XY: 724022
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.287T>C (p.L96P) alteration is located in exon 3 (coding exon 3) of the TXNDC17 gene. This alteration results from a T to C substitution at nucleotide position 287, causing the leucine (L) at amino acid position 96 to be replaced by a proline (P). 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