rs757978
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014808.4(FARP2):c.779C>A(p.Thr260Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000014 in 1,425,784 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T260I) has been classified as Likely benign.
Frequency
Consequence
NM_014808.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FARP2 | NM_014808.4 | c.779C>A | p.Thr260Asn | missense_variant | 9/27 | ENST00000264042.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FARP2 | ENST00000264042.8 | c.779C>A | p.Thr260Asn | missense_variant | 9/27 | 1 | NM_014808.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000409 AC: 1AN: 244304Hom.: 0 AF XY: 0.00000756 AC XY: 1AN XY: 132260
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1425784Hom.: 0 Cov.: 25 AF XY: 0.00000141 AC XY: 1AN XY: 711164
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at