chr1-39522439-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_181809.4(BMP8A):c.905G>A(p.Arg302His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000502 in 1,613,176 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R302C) has been classified as Uncertain significance.
Frequency
Consequence
NM_181809.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BMP8A | NM_181809.4 | c.905G>A | p.Arg302His | missense_variant | 5/7 | ENST00000331593.6 | |
PPIEL | NR_003929.2 | n.2478C>T | non_coding_transcript_exon_variant | 9/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BMP8A | ENST00000331593.6 | c.905G>A | p.Arg302His | missense_variant | 5/7 | 1 | NM_181809.4 | P1 | |
PPIEL | ENST00000692918.1 | n.1124C>T | non_coding_transcript_exon_variant | 9/9 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 151878Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000997 AC: 25AN: 250714Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135490
GnomAD4 exome AF: 0.0000520 AC: 76AN: 1461298Hom.: 0 Cov.: 36 AF XY: 0.0000481 AC XY: 35AN XY: 726910
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 151878Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74156
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 08, 2022 | The c.905G>A (p.R302H) alteration is located in exon 5 (coding exon 5) of the BMP8A gene. This alteration results from a G to A substitution at nucleotide position 905, causing the arginine (R) at amino acid position 302 to be replaced by a histidine (H). 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