14-50757940-T-A
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Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_020921.4(NIN):c.3090A>T(p.Ser1030=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.311 in 1,613,906 control chromosomes in the GnomAD database, including 81,016 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.29 ( 7015 hom., cov: 32)
Exomes 𝑓: 0.31 ( 74001 hom. )
Consequence
NIN
NM_020921.4 synonymous
NM_020921.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.919
Genes affected
NIN (HGNC:14906): (ninein) This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -21 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BP6
Variant 14-50757940-T-A is Benign according to our data. Variant chr14-50757940-T-A is described in ClinVar as [Benign]. Clinvar id is 129786.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BP7
Synonymous conserved (PhyloP=-0.919 with no splicing effect.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.489 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NIN | NM_020921.4 | c.3090A>T | p.Ser1030= | synonymous_variant | 18/31 | ENST00000530997.7 | NP_065972.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NIN | ENST00000530997.7 | c.3090A>T | p.Ser1030= | synonymous_variant | 18/31 | 5 | NM_020921.4 | ENSP00000436092 | P2 |
Frequencies
GnomAD3 genomes AF: 0.291 AC: 44258AN: 151960Hom.: 7003 Cov.: 32
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GnomAD3 exomes AF: 0.336 AC: 84602AN: 251454Hom.: 15437 AF XY: 0.328 AC XY: 44618AN XY: 135904
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GnomAD4 exome AF: 0.314 AC: 458335AN: 1461828Hom.: 74001 Cov.: 50 AF XY: 0.310 AC XY: 225706AN XY: 727224
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GnomAD4 genome AF: 0.291 AC: 44283AN: 152078Hom.: 7015 Cov.: 32 AF XY: 0.295 AC XY: 21940AN XY: 74334
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ClinVar
Significance: Benign
Submissions summary: Benign:4
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 31, 2024 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 12, 2018 | - - |
not specified Benign:1
Likely benign, no assertion criteria provided | clinical testing | Genetic Services Laboratory, University of Chicago | - | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. - |
Computational scores
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BayesDel_noAF
Benign
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DANN
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RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at