NM_173615.5:c.591C>G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_173615.5(VWA3A):c.591C>G(p.Ile197Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000688 in 1,453,632 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173615.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000424 AC: 1AN: 236070Hom.: 0 AF XY: 0.00000784 AC XY: 1AN XY: 127624
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1453632Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 722188
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.591C>G (p.I197M) alteration is located in exon 8 (coding exon 8) of the VWA3A gene. This alteration results from a C to G substitution at nucleotide position 591, causing the isoleucine (I) at amino acid position 197 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