12-68689044-A-G
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS1
The NM_020401.4(NUP107):c.91A>G(p.Arg31Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000733 in 1,611,732 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_020401.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NUP107 | NM_020401.4 | c.91A>G | p.Arg31Gly | missense_variant | 2/28 | ENST00000229179.9 | |
NUP107 | XM_005269037.5 | c.91A>G | p.Arg31Gly | missense_variant | 2/27 | ||
NUP107 | NM_001330192.2 | c.-25A>G | 5_prime_UTR_variant | 2/28 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NUP107 | ENST00000229179.9 | c.91A>G | p.Arg31Gly | missense_variant | 2/28 | 1 | NM_020401.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000440 AC: 67AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00108 AC: 270AN: 249800Hom.: 1 AF XY: 0.00159 AC XY: 214AN XY: 134994
GnomAD4 exome AF: 0.000763 AC: 1114AN: 1459406Hom.: 10 Cov.: 29 AF XY: 0.00101 AC XY: 734AN XY: 726158
GnomAD4 genome ? AF: 0.000440 AC: 67AN: 152326Hom.: 0 Cov.: 33 AF XY: 0.000577 AC XY: 43AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | May 01, 2022 | NUP107: BP4 - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Aug 27, 2023 | - - |
Inborn genetic diseases Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 27, 2023 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
NUP107-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 03, 2022 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at