chr14-24369732-G-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_004554.5(NFATC4):c.334G>C(p.Glu112Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000138 in 1,605,994 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. E112E) has been classified as Likely benign.
Frequency
Consequence
NM_004554.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NFATC4 | NM_004554.5 | c.334G>C | p.Glu112Gln | missense_variant | 2/10 | ENST00000250373.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NFATC4 | ENST00000250373.9 | c.334G>C | p.Glu112Gln | missense_variant | 2/10 | 1 | NM_004554.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000790 AC: 12AN: 151808Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000816 AC: 19AN: 232762Hom.: 0 AF XY: 0.0000708 AC XY: 9AN XY: 127086
GnomAD4 exome AF: 0.000144 AC: 209AN: 1454186Hom.: 0 Cov.: 38 AF XY: 0.000140 AC XY: 101AN XY: 722710
GnomAD4 genome ? AF: 0.0000790 AC: 12AN: 151808Hom.: 0 Cov.: 33 AF XY: 0.0000539 AC XY: 4AN XY: 74160
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 17, 2022 | The c.334G>C (p.E112Q) alteration is located in exon 2 (coding exon 2) of the NFATC4 gene. This alteration results from a G to C substitution at nucleotide position 334, causing the glutamic acid (E) at amino acid position 112 to be replaced by a glutamine (Q). 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