6-169222283-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_003247.5(THBS2):c.3187G>A(p.Val1063Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000347 in 1,613,162 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003247.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152178Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000280 AC: 7AN: 250198Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135610
GnomAD4 exome AF: 0.0000349 AC: 51AN: 1460984Hom.: 0 Cov.: 32 AF XY: 0.0000385 AC XY: 28AN XY: 726794
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152178Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3187G>A (p.V1063M) alteration is located in exon 20 (coding exon 18) of the THBS2 gene. This alteration results from a G to A substitution at nucleotide position 3187, causing the valine (V) at amino acid position 1063 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