4-6575344-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015274.3(MAN2B2):āc.134T>Cā(p.Val45Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000142 in 1,553,552 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_015274.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAN2B2 | ENST00000285599.8 | c.134T>C | p.Val45Ala | missense_variant | Exon 1 of 19 | 1 | NM_015274.3 | ENSP00000285599.3 | ||
MAN2B2 | ENST00000504248.5 | c.134T>C | p.Val45Ala | missense_variant | Exon 1 of 19 | 2 | ENSP00000423129.1 | |||
MAN2B2 | ENST00000505907.1 | c.128T>C | p.Val43Ala | missense_variant | Exon 1 of 17 | 2 | ENSP00000426273.1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000526 AC: 1AN: 190076Hom.: 0 AF XY: 0.00000948 AC XY: 1AN XY: 105532
GnomAD4 exome AF: 0.00000856 AC: 12AN: 1401254Hom.: 0 Cov.: 31 AF XY: 0.0000130 AC XY: 9AN XY: 691960
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152298Hom.: 0 Cov.: 33 AF XY: 0.0000806 AC XY: 6AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.134T>C (p.V45A) alteration is located in exon 1 (coding exon 1) of the MAN2B2 gene. This alteration results from a T to C substitution at nucleotide position 134, causing the valine (V) at amino acid position 45 to be replaced by an alanine (A). 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