chr19-12995977-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001365902.3(NFIX):c.27+113C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0317 in 334,074 control chromosomes in the GnomAD database, including 185 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.028 ( 69 hom., cov: 29)
Exomes 𝑓: 0.035 ( 116 hom. )
Consequence
NFIX
NM_001365902.3 intron
NM_001365902.3 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.600
Genes affected
NFIX (HGNC:7788): (nuclear factor I X) The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BP6
?
Variant 19-12995977-C-T is Benign according to our data. Variant chr19-12995977-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 677498.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0276 (4095/148622) while in subpopulation NFE AF= 0.0362 (2416/66832). AF 95% confidence interval is 0.0349. There are 69 homozygotes in gnomad4. There are 1882 alleles in male gnomad4 subpopulation. Median coverage is 29. This position pass quality control queck.
BS2
?
High AC in GnomAd at 4096 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NFIX | NM_001365902.3 | c.27+113C>T | intron_variant | ENST00000592199.6 | |||
NFIX | NM_001365982.2 | c.27+113C>T | intron_variant | ||||
NFIX | NM_002501.4 | c.27+113C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NFIX | ENST00000592199.6 | c.27+113C>T | intron_variant | 5 | NM_001365902.3 | P4 | |||
NFIX | ENST00000397661.6 | c.27+113C>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0276 AC: 4096AN: 148512Hom.: 69 Cov.: 29
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GnomAD4 exome AF: 0.0350 AC: 6486AN: 185452Hom.: 116 AF XY: 0.0358 AC XY: 3155AN XY: 88214
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GnomAD4 genome ? AF: 0.0276 AC: 4095AN: 148622Hom.: 69 Cov.: 29 AF XY: 0.0259 AC XY: 1882AN XY: 72548
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 16, 2018 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Computational scores
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BayesDel_noAF
Benign
Cadd
Benign
Dann
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RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at