chr12-109573349-G-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_052845.4(MMAB):c.132C>T(p.Asp44=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_052845.4 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMAB | NM_052845.4 | c.132C>T | p.Asp44= | splice_region_variant, synonymous_variant | 1/9 | ENST00000545712.7 | |
MVK | XM_047428873.1 | c.64G>A | p.Val22Ile | missense_variant | 1/11 | ||
MVK | XM_017019313.3 | c.-237G>A | 5_prime_UTR_variant | 1/10 | |||
MMAB | NR_038118.2 | n.156C>T | splice_region_variant, non_coding_transcript_exon_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMAB | ENST00000545712.7 | c.132C>T | p.Asp44= | splice_region_variant, synonymous_variant | 1/9 | 1 | NM_052845.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Methylmalonic aciduria, cblB type Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 26, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.