rs753881115
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001369369.1(FOXN1):c.537C>G(p.Ala179=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,612,960 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. A179A) has been classified as Likely benign.
Frequency
Consequence
NM_001369369.1 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXN1 | NM_001369369.1 | c.537C>G | p.Ala179= | synonymous_variant | 3/9 | ENST00000579795.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXN1 | ENST00000579795.6 | c.537C>G | p.Ala179= | synonymous_variant | 3/9 | 1 | NM_001369369.1 | P1 | |
FOXN1 | ENST00000226247.2 | c.537C>G | p.Ala179= | synonymous_variant | 2/8 | 1 | P1 | ||
RSKR | ENST00000481916.6 | c.*1196-68807G>C | intron_variant, NMD_transcript_variant | 1 | |||||
FOXN1 | ENST00000577936.2 | c.537C>G | p.Ala179= | synonymous_variant | 3/9 | 4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249458Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135260
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1460726Hom.: 0 Cov.: 34 AF XY: 0.00000688 AC XY: 5AN XY: 726672
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at