chr3-112011775-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001008272.2(TAGLN3):c.368C>A(p.Ala123Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,459,650 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_001008272.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAGLN3 | NM_001008272.2 | c.368C>A | p.Ala123Glu | missense_variant | Exon 4 of 5 | ENST00000478951.6 | NP_001008273.1 | |
TAGLN3 | NM_001008273.2 | c.368C>A | p.Ala123Glu | missense_variant | Exon 3 of 4 | NP_001008274.1 | ||
TAGLN3 | NM_013259.3 | c.368C>A | p.Ala123Glu | missense_variant | Exon 4 of 5 | NP_037391.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459650Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726182
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.368C>A (p.A123E) alteration is located in exon 4 (coding exon 3) of the TAGLN3 gene. This alteration results from a C to A substitution at nucleotide position 368, causing the alanine (A) at amino acid position 123 to be replaced by a glutamic acid (E). 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
Publications
No publications associated with this variant yet.