17-1707979-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001164407.2(TLCD2):c.586C>T(p.Pro196Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000111 in 1,537,148 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001164407.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000347 AC: 5AN: 144090Hom.: 0 AF XY: 0.0000390 AC XY: 3AN XY: 76956
GnomAD4 exome AF: 0.00000505 AC: 7AN: 1384944Hom.: 0 Cov.: 29 AF XY: 0.00000293 AC XY: 2AN XY: 683398
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.586C>T (p.P196S) alteration is located in exon 4 (coding exon 4) of the TLCD2 gene. This alteration results from a C to T substitution at nucleotide position 586, causing the proline (P) at amino acid position 196 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