rs104895288
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_001065.4(TNFRSF1A):c.434A>T(p.Asn145Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,720 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001065.4 missense
Scores
Clinical Significance
Conservation
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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.434A>T | p.Asn145Ile | missense_variant | Exon 4 of 10 | ENST00000162749.7 | NP_001056.1 | |
TNFRSF1A | NM_001346091.2 | c.110A>T | p.Asn37Ile | missense_variant | Exon 3 of 9 | NP_001333020.1 | ||
TNFRSF1A | NM_001346092.2 | c.-144A>T | 5_prime_UTR_variant | Exon 4 of 11 | NP_001333021.1 | |||
TNFRSF1A | NR_144351.2 | n.696A>T | non_coding_transcript_exon_variant | Exon 4 of 9 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461720Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727160
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.