NM_007051.3:c.946G>T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007051.3(FAF1):c.946G>T(p.Ala316Ser) 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. 15/20 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAF1 | ENST00000396153.7 | c.946G>T | p.Ala316Ser | missense_variant | Exon 10 of 19 | 1 | NM_007051.3 | ENSP00000379457.2 | ||
FAF1 | ENST00000472808.1 | n.300G>T | non_coding_transcript_exon_variant | Exon 3 of 7 | 3 | |||||
FAF1 | ENST00000494400.5 | n.364G>T | non_coding_transcript_exon_variant | Exon 4 of 14 | 2 | ENSP00000434929.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.946G>T (p.A316S) alteration is located in exon 10 (coding exon 10) of the FAF1 gene. This alteration results from a G to T substitution at nucleotide position 946, causing the alanine (A) at amino acid position 316 to be replaced by a serine (S). 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