9-126381156-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BA1
The NM_033446.3(MVB12B):āc.297A>Gā(p.Ser99Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.11 in 1,612,318 control chromosomes in the GnomAD database, including 11,160 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_033446.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MVB12B | NM_033446.3 | c.297A>G | p.Ser99Ser | synonymous_variant | Exon 3 of 10 | ENST00000361171.8 | NP_258257.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MVB12B | ENST00000361171.8 | c.297A>G | p.Ser99Ser | synonymous_variant | Exon 3 of 10 | 2 | NM_033446.3 | ENSP00000354772.3 | ||
MVB12B | ENST00000489637.3 | c.297A>G | p.Ser99Ser | synonymous_variant | Exon 3 of 6 | 1 | ENSP00000485994.1 | |||
MVB12B | ENST00000402437.2 | c.252A>G | p.Ser84Ser | synonymous_variant | Exon 3 of 6 | 3 | ENSP00000384751.2 |
Frequencies
GnomAD3 genomes AF: 0.0947 AC: 14400AN: 152134Hom.: 915 Cov.: 33
GnomAD3 exomes AF: 0.132 AC: 33130AN: 251212Hom.: 2744 AF XY: 0.132 AC XY: 17881AN XY: 135800
GnomAD4 exome AF: 0.111 AC: 162188AN: 1460066Hom.: 10247 Cov.: 31 AF XY: 0.113 AC XY: 82012AN XY: 726498
GnomAD4 genome AF: 0.0945 AC: 14387AN: 152252Hom.: 913 Cov.: 33 AF XY: 0.0974 AC XY: 7253AN XY: 74444
ClinVar
Submissions by phenotype
MVB12B-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at