chr9-114930279-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001244.4(TNFSF8):āc.25C>Gā(p.Leu9Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000088 in 1,590,844 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001244.4 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 |
---|---|---|---|---|---|---|---|
TNFSF8 | NM_001244.4 | c.25C>G | p.Leu9Val | missense_variant | 1/4 | ENST00000223795.3 | |
TNFSF8 | NM_001252290.1 | c.25C>G | p.Leu9Val | missense_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNFSF8 | ENST00000223795.3 | c.25C>G | p.Leu9Val | missense_variant | 1/4 | 1 | NM_001244.4 | P1 | |
TNFSF8 | ENST00000618336.4 | c.25C>G | p.Leu9Val | missense_variant | 1/5 | 3 | |||
DELEC1 | ENST00000648852.1 | n.198+8681G>C | intron_variant, non_coding_transcript_variant | ||||||
DELEC1 | ENST00000649565.1 | n.226-39305G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000877 AC: 2AN: 228094Hom.: 0 AF XY: 0.0000161 AC XY: 2AN XY: 123984
GnomAD4 exome AF: 0.00000904 AC: 13AN: 1438664Hom.: 0 Cov.: 30 AF XY: 0.00000838 AC XY: 6AN XY: 715674
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152180Hom.: 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 | Nov 13, 2023 | The c.25C>G (p.L9V) alteration is located in exon 1 (coding exon 1) of the TNFSF8 gene. This alteration results from a C to G substitution at nucleotide position 25, causing the leucine (L) at amino acid position 9 to be replaced by a valine (V). 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