rs328694
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001367956.1(FAM170A):c.517C>A(p.Pro173Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign 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. P173S) has been classified as Likely benign.
Frequency
Consequence
NM_001367956.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM170A | NM_001367956.1 | c.517C>A | p.Pro173Thr | missense_variant | 3/5 | ENST00000695508.1 | |
FAM170A | NM_182761.4 | c.517C>A | p.Pro173Thr | missense_variant | 3/5 | ||
FAM170A | NM_001163991.2 | c.376C>A | p.Pro126Thr | missense_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM170A | ENST00000695508.1 | c.517C>A | p.Pro173Thr | missense_variant | 3/5 | NM_001367956.1 | P4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 53
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at