6-17616656-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005124.4(NUP153):āc.4214A>Gā(p.Asn1405Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000304 in 1,613,806 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005124.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NUP153 | NM_005124.4 | c.4214A>G | p.Asn1405Ser | missense_variant | 21/22 | ENST00000262077.3 | NP_005115.2 | |
NUP153 | NM_001278209.2 | c.4307A>G | p.Asn1436Ser | missense_variant | 22/23 | NP_001265138.1 | ||
NUP153 | NM_001278210.2 | c.4088A>G | p.Asn1363Ser | missense_variant | 20/21 | NP_001265139.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NUP153 | ENST00000262077.3 | c.4214A>G | p.Asn1405Ser | missense_variant | 21/22 | 1 | NM_005124.4 | ENSP00000262077.3 | ||
NUP153 | ENST00000613258.4 | c.4088A>G | p.Asn1363Ser | missense_variant | 20/21 | 1 | ENSP00000478627.1 | |||
NUP153 | ENST00000537253.5 | c.4307A>G | p.Asn1436Ser | missense_variant | 22/23 | 2 | ENSP00000444029.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251180Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135762
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1461606Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 727070
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 22, 2023 | The c.4214A>G (p.N1405S) alteration is located in exon 21 (coding exon 21) of the NUP153 gene. This alteration results from a A to G substitution at nucleotide position 4214, causing the asparagine (N) at amino acid position 1405 to be replaced by a serine (S). 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