chr9-14116247-T-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001190737.2(NFIB):c.1345A>C(p.Ser449Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000728 in 1,538,286 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001190737.2 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 | UniProt |
---|---|---|---|---|---|---|---|
NFIB | NM_001190737.2 | c.1345A>C | p.Ser449Arg | missense_variant | 9/11 | ENST00000380953.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NFIB | ENST00000380953.6 | c.1345A>C | p.Ser449Arg | missense_variant | 9/11 | 1 | NM_001190737.2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000908 AC: 13AN: 143214Hom.: 0 AF XY: 0.0000653 AC XY: 5AN XY: 76600
GnomAD4 exome AF: 0.0000736 AC: 102AN: 1386066Hom.: 0 Cov.: 31 AF XY: 0.0000849 AC XY: 58AN XY: 683276
GnomAD4 genome ? AF: 0.0000657 AC: 10AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74372
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 03, 2021 | The c.1345A>C (p.S449R) alteration is located in exon 9 (coding exon 9) of the NFIB gene. This alteration results from a A to C substitution at nucleotide position 1345, causing the serine (S) at amino acid position 449 to be replaced by an arginine (R). 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