chr1-61077852-C-CT
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The ENST00000371191.5(NFIA):c.97-10283dup variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0237 in 113,374 control chromosomes in the GnomAD database, including 67 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.024 ( 67 hom., cov: 31)
Consequence
NFIA
ENST00000371191.5 intron
ENST00000371191.5 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.959
Genes affected
NFIA (HGNC:7784): (nuclear factor I A) This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
Variant 1-61077852-C-CT is Benign according to our data. Variant chr1-61077852-C-CT is described in ClinVar as [Benign]. Clinvar id is 1231072.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0676 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NFIA | NM_001145511.2 | c.3+238dup | intron_variant | NP_001138983.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NFIA | ENST00000371191.5 | c.97-10283dup | intron_variant | 5 | ENSP00000360233 | |||||
NFIA | ENST00000407417.7 | c.3+238dup | intron_variant | 2 | ENSP00000384680 | |||||
NFIA | ENST00000476646.5 | c.-114-10283dup | intron_variant | 3 | ENSP00000474461 |
Frequencies
GnomAD3 genomes AF: 0.0237 AC: 2683AN: 113392Hom.: 67 Cov.: 31
GnomAD3 genomes
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0237 AC: 2687AN: 113374Hom.: 67 Cov.: 31 AF XY: 0.0225 AC XY: 1228AN XY: 54488
GnomAD4 genome
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54488
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 01, 2020 | - - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at