chr6-32053578-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001365276.2(TNXB):c.8601C>G(p.Pro2867=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,376 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P2867P) has been classified as Benign.
Frequency
Consequence
NM_001365276.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TNXB | NM_001365276.2 | c.8601C>G | p.Pro2867= | synonymous_variant | 25/44 | ENST00000644971.2 | |
TNXB | NM_019105.8 | c.8595C>G | p.Pro2865= | synonymous_variant | 25/44 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNXB | ENST00000644971.2 | c.8601C>G | p.Pro2867= | synonymous_variant | 25/44 | NM_001365276.2 | |||
TNXB | ENST00000647633.1 | c.9342C>G | p.Pro3114= | synonymous_variant | 26/45 | P1 | |||
TNXB | ENST00000375244.7 | c.8601C>G | p.Pro2867= | synonymous_variant | 25/44 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000810 AC: 2AN: 246948Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134438
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461376Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726982
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at