12-71125363-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004616.3(TSPAN8):c.685G>T(p.Val229Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,612,112 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004616.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TSPAN8 | ENST00000247829.8 | c.685G>T | p.Val229Phe | missense_variant | Exon 9 of 9 | 1 | NM_004616.3 | ENSP00000247829.3 | ||
TSPAN8 | ENST00000393330.6 | c.685G>T | p.Val229Phe | missense_variant | Exon 12 of 12 | 1 | ENSP00000377003.2 | |||
TSPAN8 | ENST00000546561.2 | c.685G>T | p.Val229Phe | missense_variant | Exon 8 of 8 | 1 | ENSP00000447160.1 | |||
TSPAN8 | ENST00000552128.2 | n.549G>T | non_coding_transcript_exon_variant | Exon 6 of 6 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151896Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 250100Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135198
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1460216Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 726362
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151896Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74150
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.685G>T (p.V229F) alteration is located in exon 9 (coding exon 8) of the TSPAN8 gene. This alteration results from a G to T substitution at nucleotide position 685, causing the valine (V) at amino acid position 229 to be replaced by a phenylalanine (F). 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