chr2-28412075-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005253.4(FOSL2):c.608C>A(p.Ala203Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,455,060 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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. A203T) has been classified as Uncertain significance.
Frequency
Consequence
NM_005253.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FOSL2 | NM_005253.4 | c.608C>A | p.Ala203Asp | missense_variant | Exon 4 of 4 | ENST00000264716.9 | NP_005244.1 | |
FOSL2 | XM_006711976.4 | c.659C>A | p.Ala220Asp | missense_variant | Exon 4 of 4 | XP_006712039.1 | ||
FOSL2 | XM_006711977.4 | c.542C>A | p.Ala181Asp | missense_variant | Exon 4 of 4 | XP_006712040.1 | ||
FOSL2 | XM_005264231.5 | c.*93C>A | 3_prime_UTR_variant | Exon 5 of 5 | XP_005264288.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FOSL2 | ENST00000264716.9 | c.608C>A | p.Ala203Asp | missense_variant | Exon 4 of 4 | 1 | NM_005253.4 | ENSP00000264716.4 | ||
FOSL2 | ENST00000379619.5 | c.584C>A | p.Ala195Asp | missense_variant | Exon 4 of 4 | 1 | ENSP00000368939.1 | |||
FOSL2 | ENST00000436647.1 | c.491C>A | p.Ala164Asp | missense_variant | Exon 4 of 4 | 2 | ENSP00000396497.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455060Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 724040
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.