15-39583689-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_003246.4(THBS1):āc.700A>Gā(p.Ser234Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000459 in 1,613,714 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003246.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
THBS1 | NM_003246.4 | c.700A>G | p.Ser234Gly | missense_variant | Exon 4 of 22 | ENST00000260356.6 | NP_003237.2 | |
THBS1 | XM_047432980.1 | c.700A>G | p.Ser234Gly | missense_variant | Exon 4 of 22 | XP_047288936.1 | ||
THBS1 | XM_011521971.3 | c.700A>G | p.Ser234Gly | missense_variant | Exon 4 of 21 | XP_011520273.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251090Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135748
GnomAD4 exome AF: 0.0000458 AC: 67AN: 1461558Hom.: 0 Cov.: 33 AF XY: 0.0000454 AC XY: 33AN XY: 727078
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.700A>G (p.S234G) alteration is located in exon 4 (coding exon 3) of the THBS1 gene. This alteration results from a A to G substitution at nucleotide position 700, causing the serine (S) at amino acid position 234 to be replaced by a glycine (G). 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