rs587780390
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016219.5(MAN1B1):āc.719A>Gā(p.Gln240Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,555,924 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_016219.5 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 |
---|---|---|---|---|---|---|---|
MAN1B1 | NM_016219.5 | c.719A>G | p.Gln240Arg | missense_variant | 5/13 | ENST00000371589.9 | |
MAN1B1 | XM_006716945.5 | c.719A>G | p.Gln240Arg | missense_variant | 5/12 | ||
MAN1B1 | NR_045720.2 | n.734A>G | non_coding_transcript_exon_variant | 5/13 | |||
MAN1B1 | NR_045721.2 | n.865A>G | non_coding_transcript_exon_variant | 6/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAN1B1 | ENST00000371589.9 | c.719A>G | p.Gln240Arg | missense_variant | 5/13 | 1 | NM_016219.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000187 AC: 3AN: 160496Hom.: 0 AF XY: 0.0000352 AC XY: 3AN XY: 85278
GnomAD4 exome AF: 0.0000178 AC: 25AN: 1403750Hom.: 0 Cov.: 31 AF XY: 0.0000245 AC XY: 17AN XY: 693046
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Oct 22, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at