1-12115595-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001243.5(TNFRSF8):c.812C>T(p.Thr271Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,614,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001243.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNFRSF8 | NM_001243.5 | c.812C>T | p.Thr271Met | missense_variant | 8/15 | ENST00000263932.7 | NP_001234.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNFRSF8 | ENST00000263932.7 | c.812C>T | p.Thr271Met | missense_variant | 8/15 | 1 | NM_001243.5 | ENSP00000263932 | P1 | |
TNFRSF8 | ENST00000417814.3 | c.479C>T | p.Thr160Met | missense_variant | 7/14 | 1 | ENSP00000390650 | |||
TNFRSF8 | ENST00000514649.5 | c.*556C>T | 3_prime_UTR_variant, NMD_transcript_variant | 7/14 | 1 | ENSP00000421938 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152190Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251444Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135906
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461890Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 727248
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152190Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 13, 2021 | The c.812C>T (p.T271M) alteration is located in exon 8 (coding exon 8) of the TNFRSF8 gene. This alteration results from a C to T substitution at nucleotide position 812, causing the threonine (T) at amino acid position 271 to be replaced by a methionine (M). 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