1-39763173-C-G
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001720.5(BMP8B):āc.978G>Cā(p.Ser326=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000335 in 1,613,602 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 Likely benign (ā ). Synonymous variant affecting the same amino acid position (i.e. S326S) has been classified as Likely benign.
Frequency
Consequence
NM_001720.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BMP8B | NM_001720.5 | c.978G>C | p.Ser326= | synonymous_variant | 6/7 | ENST00000372827.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BMP8B | ENST00000372827.8 | c.978G>C | p.Ser326= | synonymous_variant | 6/7 | 1 | NM_001720.5 | P1 | |
PPIE | ENST00000356511.6 | c.838-516C>G | intron_variant | 1 | |||||
PPIE | ENST00000372830.5 | c.*28-516C>G | intron_variant | 1 | |||||
PPIE | ENST00000467741.2 | n.401-516C>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000250 AC: 38AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000167 AC: 42AN: 251002Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135630
GnomAD4 exome AF: 0.000344 AC: 503AN: 1461514Hom.: 0 Cov.: 31 AF XY: 0.000320 AC XY: 233AN XY: 727074
GnomAD4 genome AF: 0.000250 AC: 38AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.000229 AC XY: 17AN XY: 74278
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Mar 29, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at