chr12-57525800-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_052897.4(MBD6):c.832C>T(p.Leu278Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000785 in 1,147,182 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (★).
Frequency
Consequence
NM_052897.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MBD6 | NM_052897.4 | c.832C>T | p.Leu278Phe | missense_variant | 6/13 | ENST00000355673.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MBD6 | ENST00000355673.8 | c.832C>T | p.Leu278Phe | missense_variant | 6/13 | 1 | NM_052897.4 | P1 | |
MBD6 | ENST00000552659.1 | c.365-511C>T | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000357 AC: 5AN: 139872Hom.: 0 Cov.: 28
GnomAD4 exome AF: 0.00000397 AC: 4AN: 1007310Hom.: 0 Cov.: 43 AF XY: 0.00000394 AC XY: 2AN XY: 507074
GnomAD4 genome AF: 0.0000357 AC: 5AN: 139872Hom.: 0 Cov.: 28 AF XY: 0.0000591 AC XY: 4AN XY: 67728
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 01, 2022 | The c.832C>T (p.L278F) alteration is located in exon 6 (coding exon 4) of the MBD6 gene. This alteration results from a C to T substitution at nucleotide position 832, causing the leucine (L) at amino acid position 278 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at