NM_005892.4:c.908A>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005892.4(FMNL1):c.908A>C(p.Gln303Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,858 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005892.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FMNL1 | NM_005892.4 | c.908A>C | p.Gln303Pro | missense_variant | Exon 10 of 27 | ENST00000331495.8 | NP_005883.3 | |
FMNL1 | NM_001411128.1 | c.908A>C | p.Gln303Pro | missense_variant | Exon 10 of 26 | NP_001398057.1 | ||
FMNL1-AS1 | NR_186807.1 | n.1490T>G | non_coding_transcript_exon_variant | Exon 2 of 2 | ||||
FMNL1-AS1 | NR_186808.1 | n.1440T>G | non_coding_transcript_exon_variant | Exon 3 of 3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461858Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727232
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.908A>C (p.Q303P) alteration is located in exon 10 (coding exon 10) of the FMNL1 gene. This alteration results from a A to C substitution at nucleotide position 908, causing the glutamine (Q) at amino acid position 303 to be replaced by a proline (P). 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.