rs1291205
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_003823.4(TNFRSF6B):c.573C>A(p.Thr191=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000701 in 1,425,658 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. T191T) has been classified as Benign.
Frequency
Consequence
NM_003823.4 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 |
---|---|---|---|---|---|---|---|
TNFRSF6B | NM_003823.4 | c.573C>A | p.Thr191= | synonymous_variant | 2/3 | ENST00000369996.3 | |
RTEL1-TNFRSF6B | NR_037882.1 | n.5307C>A | non_coding_transcript_exon_variant | 37/38 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNFRSF6B | ENST00000369996.3 | c.573C>A | p.Thr191= | synonymous_variant | 2/3 | 1 | NM_003823.4 | P1 | |
RTEL1-TNFRSF6B | ENST00000697815.1 | n.3227C>A | non_coding_transcript_exon_variant | 14/15 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 7.01e-7 AC: 1AN: 1425658Hom.: 0 Cov.: 39 AF XY: 0.00 AC XY: 0AN XY: 706198
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at