chr16-69693176-T-C
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_138713.4(NFAT5):c.3351T>C(p.Ile1117Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00811 in 1,614,074 control chromosomes in the GnomAD database, including 952 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_138713.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0443 AC: 6738AN: 152076Hom.: 513 Cov.: 32
GnomAD3 exomes AF: 0.0112 AC: 2804AN: 251340Hom.: 189 AF XY: 0.00832 AC XY: 1131AN XY: 135856
GnomAD4 exome AF: 0.00434 AC: 6349AN: 1461880Hom.: 441 Cov.: 33 AF XY: 0.00379 AC XY: 2758AN XY: 727240
GnomAD4 genome AF: 0.0443 AC: 6738AN: 152194Hom.: 511 Cov.: 32 AF XY: 0.0434 AC XY: 3229AN XY: 74418
ClinVar
Submissions by phenotype
NFAT5-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
- -
Immunodeficiency Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at