rs140085549
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_138713.4(NFAT5):āc.1839A>Cā(p.Pro613=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,457,332 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P613P) has been classified as Benign.
Frequency
Consequence
NM_138713.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NFAT5 | NM_138713.4 | c.1839A>C | p.Pro613= | synonymous_variant | 12/15 | ENST00000349945.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NFAT5 | ENST00000349945.7 | c.1839A>C | p.Pro613= | synonymous_variant | 12/15 | 1 | NM_138713.4 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248056Hom.: 0 AF XY: 0.00000746 AC XY: 1AN XY: 134008
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1457332Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 2AN XY: 724704
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at