1-39492316-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_181809.4(BMP8A):c.325G>A(p.Val109Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000115 in 1,559,572 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. V109V) has been classified as Likely benign.
Frequency
Consequence
NM_181809.4 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 AF: 0.0000723 AC: 11AN: 152140Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000355 AC: 5AN: 1407312Hom.: 0 Cov.: 78 AF XY: 0.00000143 AC XY: 1AN XY: 701040
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152260Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 26, 2024 | The c.325G>A (p.V109I) alteration is located in exon 1 (coding exon 1) of the BMP8A gene. This alteration results from a G to A substitution at nucleotide position 325, causing the valine (V) at amino acid position 109 to be replaced by an isoleucine (I). 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