chr1-39522412-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_181809.4(BMP8A):c.878G>A(p.Arg293His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.445 in 136,950 control chromosomes in the GnomAD database, including 13,820 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_181809.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.445 AC: 60877AN: 136834Hom.: 13814 Cov.: 28
GnomAD3 exomes AF: 0.469 AC: 83984AN: 179010Hom.: 25205 AF XY: 0.486 AC XY: 46889AN XY: 96516
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.514 AC: 598076AN: 1163002Hom.: 174929 Cov.: 43 AF XY: 0.521 AC XY: 302485AN XY: 580912
GnomAD4 genome AF: 0.445 AC: 60892AN: 136950Hom.: 13820 Cov.: 28 AF XY: 0.449 AC XY: 29845AN XY: 66404
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jun 06, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at