rs786205219
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP3_StrongPP5
The NM_006129.5(BMP1):c.808A>G(p.Met270Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,046 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M270T) has been classified as Uncertain significance.
Frequency
Consequence
NM_006129.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BMP1 | NM_006129.5 | c.808A>G | p.Met270Val | missense_variant | 6/20 | ENST00000306385.10 | |
BMP1 | NM_001199.4 | c.808A>G | p.Met270Val | missense_variant | 6/16 | ENST00000306349.13 | |
BMP1 | NR_033403.2 | n.879A>G | non_coding_transcript_exon_variant | 6/20 | |||
BMP1 | NR_033404.2 | n.879A>G | non_coding_transcript_exon_variant | 6/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BMP1 | ENST00000306385.10 | c.808A>G | p.Met270Val | missense_variant | 6/20 | 1 | NM_006129.5 | P1 | |
BMP1 | ENST00000306349.13 | c.808A>G | p.Met270Val | missense_variant | 6/16 | 1 | NM_001199.4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461046Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726756
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Osteogenesis imperfecta type 13 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Feb 01, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at