5-80059724-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003248.6(THBS4):c.806C>T(p.Pro269Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000105 in 1,614,036 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003248.6 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 |
---|---|---|---|---|---|---|---|---|---|---|
THBS4 | ENST00000350881.6 | c.806C>T | p.Pro269Leu | missense_variant | Exon 7 of 22 | 1 | NM_003248.6 | ENSP00000339730.2 | ||
THBS4 | ENST00000511733.1 | c.533C>T | p.Pro178Leu | missense_variant | Exon 7 of 22 | 2 | ENSP00000422298.1 | |||
THBS4-AS1 | ENST00000503007.5 | n.429-6823G>A | intron_variant | Intron 3 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251320Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135840
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461874Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 727238
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.806C>T (p.P269L) alteration is located in exon 7 (coding exon 7) of the THBS4 gene. This alteration results from a C to T substitution at nucleotide position 806, causing the proline (P) at amino acid position 269 to be replaced by a leucine (L). 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