rs755361381
- chr2-148021483-GCTGCTGCTGCTGCTACTGCTGCTGCTGCTA-G
- chr2-148021483-GCTGCTGCTGCTGCTACTGCTGCTGCTGCTA-GCTGCTGCTGCTGCTA
- chr2-148021483-GCTGCTGCTGCTGCTACTGCTGCTGCTGCTA-GCTGCTGCTGCTGCTACTGCTGCTGCTGCTACTGCTGCTGCTGCTA
- chr2-148021483-GCTGCTGCTGCTGCTACTGCTGCTGCTGCTA-GCTGCTGCTGCTGCTACTGCTGCTGCTGCTACTGCTGCTGCTGCTACTGCTGCTGCTGCTA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001378120.1(MBD5):c.-1114_-1085delGCTACTGCTGCTGCTGCTACTGCTGCTGCT variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000483 in 414,108 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001378120.1 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MBD5 | NM_001378120.1 | c.-1114_-1085delGCTACTGCTGCTGCTGCTACTGCTGCTGCT | 5_prime_UTR_variant | Exon 1 of 14 | ENST00000642680.2 | NP_001365049.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MBD5 | ENST00000642680 | c.-1114_-1085delGCTACTGCTGCTGCTGCTACTGCTGCTGCT | 5_prime_UTR_variant | Exon 1 of 14 | NM_001378120.1 | ENSP00000493871.2 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome AF: 0.00000483 AC: 2AN: 414108Hom.: 0 AF XY: 0.00000873 AC XY: 2AN XY: 229146
GnomAD4 genome Cov.: 29
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.