1-50582648-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007051.3(FAF1):c.1083T>A(p.Phe361Leu) 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. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007051.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAF1 | NM_007051.3 | c.1083T>A | p.Phe361Leu | missense_variant | 12/19 | ENST00000396153.7 | NP_008982.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAF1 | ENST00000396153.7 | c.1083T>A | p.Phe361Leu | missense_variant | 12/19 | 1 | NM_007051.3 | ENSP00000379457.2 | ||
FAF1 | ENST00000472808.1 | n.437T>A | non_coding_transcript_exon_variant | 5/7 | 3 | |||||
FAF1 | ENST00000494400.5 | n.501T>A | non_coding_transcript_exon_variant | 6/14 | 2 | ENSP00000434929.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 28
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 15, 2021 | The c.1083T>A (p.F361L) alteration is located in exon 12 (coding exon 12) of the FAF1 gene. This alteration results from a T to A substitution at nucleotide position 1083, causing the phenylalanine (F) at amino acid position 361 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.