1-159919352-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003564.3(TAGLN2):c.380G>A(p.Arg127Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000452 in 1,614,094 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003564.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAGLN2 | NM_003564.3 | c.380G>A | p.Arg127Gln | missense_variant | Exon 4 of 5 | ENST00000368097.9 | NP_003555.1 | |
TAGLN2 | NM_001277224.2 | c.443G>A | p.Arg148Gln | missense_variant | Exon 4 of 5 | NP_001264153.1 | ||
TAGLN2 | NM_001277223.2 | c.380G>A | p.Arg127Gln | missense_variant | Exon 4 of 5 | NP_001264152.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251480Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135918
GnomAD4 exome AF: 0.0000438 AC: 64AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 727246
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.380G>A (p.R127Q) alteration is located in exon 4 (coding exon 3) of the TAGLN2 gene. This alteration results from a G to A substitution at nucleotide position 380, causing the arginine (R) at amino acid position 127 to be replaced by a glutamine (Q). 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