chr8-23154956-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003840.5(TNFRSF10D):āc.174C>Gā(p.Ile58Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,532 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003840.5 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 | UniProt |
---|---|---|---|---|---|---|---|
TNFRSF10D | NM_003840.5 | c.174C>G | p.Ile58Met | missense_variant | 2/9 | ENST00000312584.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNFRSF10D | ENST00000312584.4 | c.174C>G | p.Ile58Met | missense_variant | 2/9 | 1 | NM_003840.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248372Hom.: 0 AF XY: 0.00000745 AC XY: 1AN XY: 134238
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460532Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726480
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 03, 2024 | The c.174C>G (p.I58M) alteration is located in exon 2 (coding exon 2) of the TNFRSF10D gene. This alteration results from a C to G substitution at nucleotide position 174, causing the isoleucine (I) at amino acid position 58 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