12-6333835-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_001065.4(TNFRSF1A):āc.224C>Gā(p.Pro75Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,144 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P75L) has been classified as Likely benign.
Frequency
Consequence
NM_001065.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNFRSF1A | NM_001065.4 | c.224C>G | p.Pro75Arg | missense_variant | Exon 3 of 10 | ENST00000162749.7 | NP_001056.1 | |
TNFRSF1A | NM_001346091.2 | c.-101C>G | 5_prime_UTR_variant | Exon 2 of 9 | NP_001333020.1 | |||
TNFRSF1A | NM_001346092.2 | c.-354C>G | 5_prime_UTR_variant | Exon 3 of 11 | NP_001333021.1 | |||
TNFRSF1A | NR_144351.2 | n.486C>G | non_coding_transcript_exon_variant | Exon 3 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at