NM_001382683.1:c.437C>G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001382683.1(MBNL2):c.437C>G(p.Thr146Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,613,826 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T146M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001382683.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MBNL2 | NM_001382683.1 | c.437C>G | p.Thr146Arg | missense_variant | Exon 4 of 9 | ENST00000679496.1 | NP_001369612.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MBNL2 | ENST00000679496.1 | c.437C>G | p.Thr146Arg | missense_variant | Exon 4 of 9 | NM_001382683.1 | ENSP00000505596.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152188Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461638Hom.: 0 Cov.: 30 AF XY: 0.0000151 AC XY: 11AN XY: 727144
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152188Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.437C>G (p.T146R) alteration is located in exon 4 (coding exon 3) of the MBNL2 gene. This alteration results from a C to G substitution at nucleotide position 437, causing the threonine (T) at amino acid position 146 to be replaced by an arginine (R). 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