NM_001164473.3:c.230A>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001164473.3(FNBP1L):c.230A>G(p.Asn77Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000687 in 1,456,114 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001164473.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FNBP1L | NM_001164473.3 | c.230A>G | p.Asn77Ser | missense_variant | Exon 4 of 17 | ENST00000271234.13 | NP_001157945.1 | |
FNBP1L | NM_001024948.3 | c.230A>G | p.Asn77Ser | missense_variant | Exon 4 of 14 | NP_001020119.1 | ||
FNBP1L | NM_017737.5 | c.230A>G | p.Asn77Ser | missense_variant | Exon 4 of 15 | NP_060207.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FNBP1L | ENST00000271234.13 | c.230A>G | p.Asn77Ser | missense_variant | Exon 4 of 17 | 5 | NM_001164473.3 | ENSP00000271234.7 | ||
FNBP1L | ENST00000260506.12 | c.230A>G | p.Asn77Ser | missense_variant | Exon 4 of 14 | 1 | ENSP00000260506.8 | |||
FNBP1L | ENST00000370253.6 | c.230A>G | p.Asn77Ser | missense_variant | Exon 4 of 15 | 5 | ENSP00000359275.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000418 AC: 1AN: 239284Hom.: 0 AF XY: 0.00000773 AC XY: 1AN XY: 129336
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456114Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 723644
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.230A>G (p.N77S) alteration is located in exon 4 (coding exon 4) of the FNBP1L gene. This alteration results from a A to G substitution at nucleotide position 230, causing the asparagine (N) at amino acid position 77 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