chr1-77917567-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_144573.4(NEXN):āc.29T>Gā(p.Ile10Ser) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.000000687 in 1,456,168 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_144573.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NEXN | NM_144573.4 | c.29T>G | p.Ile10Ser | missense_variant, splice_region_variant | 3/13 | ENST00000334785.12 | NP_653174.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NEXN | ENST00000334785.12 | c.29T>G | p.Ile10Ser | missense_variant, splice_region_variant | 3/13 | 1 | NM_144573.4 | ENSP00000333938 | P3 | |
NEXN | ENST00000401035.7 | c.28-393T>G | intron_variant | 1 | ENSP00000383814 | |||||
NEXN | ENST00000440324.5 | c.29T>G | p.Ile10Ser | missense_variant, splice_region_variant | 3/10 | 5 | ENSP00000411902 | |||
NEXN | ENST00000330010.12 | c.28-393T>G | intron_variant | 2 | ENSP00000327363 | A1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456168Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 724650
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Cardiovascular phenotype Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 11, 2023 | The p.I10S variant (also known as c.29T>G), located in coding exon 2 of the NEXN gene, results from a T to G substitution at nucleotide position 29. The isoleucine at codon 10 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.