chr6-32061406-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001365276.2(TNXB):c.7483G>C(p.Gly2495Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,396 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G2495S) has been classified as Benign.
Frequency
Consequence
NM_001365276.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TNXB | NM_001365276.2 | c.7483G>C | p.Gly2495Arg | missense_variant | 21/44 | ENST00000644971.2 | |
TNXB | NM_019105.8 | c.7483G>C | p.Gly2495Arg | missense_variant | 21/44 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNXB | ENST00000644971.2 | c.7483G>C | p.Gly2495Arg | missense_variant | 21/44 | NM_001365276.2 | |||
TNXB | ENST00000647633.1 | c.8224G>C | p.Gly2742Arg | missense_variant | 22/45 | P1 | |||
TNXB | ENST00000375244.7 | c.7483G>C | p.Gly2495Arg | missense_variant | 21/44 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000408 AC: 1AN: 245182Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133522
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460396Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726384
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at