chr7-11379109-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015204.3(THSD7A):c.4762G>A(p.Gly1588Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,324 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015204.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248864Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135002
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461324Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726956
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4762G>A (p.G1588R) alteration is located in exon 26 (coding exon 26) of the THSD7A gene. This alteration results from a G to A substitution at nucleotide position 4762, causing the glycine (G) at amino acid position 1588 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