NM_001316349.2:c.860A>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001316349.2(THSD7B):c.860A>G(p.His287Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,613,876 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001316349.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 249048Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135134
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461702Hom.: 0 Cov.: 34 AF XY: 0.00000963 AC XY: 7AN XY: 727136
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.767A>G (p.H256R) alteration is located in exon 2 (coding exon 2) of the THSD7B gene. This alteration results from a A to G substitution at nucleotide position 767, causing the histidine (H) at amino acid position 256 to be replaced by an arginine (R). 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