X-16832725-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_018360.3(TXLNG):c.967C>G(p.Gln323Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000922 in 1,193,129 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 5 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018360.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TXLNG | ENST00000380122.10 | c.967C>G | p.Gln323Glu | missense_variant | Exon 6 of 10 | 1 | NM_018360.3 | ENSP00000369465.5 | ||
TXLNG | ENST00000398155.4 | c.571C>G | p.Gln191Glu | missense_variant | Exon 4 of 8 | 1 | ENSP00000381222.4 |
Frequencies
GnomAD3 genomes AF: 0.0000179 AC: 2AN: 111736Hom.: 0 Cov.: 24 AF XY: 0.0000294 AC XY: 1AN XY: 34032
GnomAD3 exomes AF: 0.0000204 AC: 3AN: 147057Hom.: 0 AF XY: 0.0000215 AC XY: 1AN XY: 46537
GnomAD4 exome AF: 0.00000832 AC: 9AN: 1081393Hom.: 0 Cov.: 30 AF XY: 0.0000114 AC XY: 4AN XY: 351327
GnomAD4 genome AF: 0.0000179 AC: 2AN: 111736Hom.: 0 Cov.: 24 AF XY: 0.0000294 AC XY: 1AN XY: 34032
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.967C>G (p.Q323E) alteration is located in exon 6 (coding exon 6) of the TXLNG gene. This alteration results from a C to G substitution at nucleotide position 967, causing the glutamine (Q) at amino acid position 323 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