1-206909820-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005449.5(FCMR):āc.890A>Gā(p.Glu297Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000844 in 1,410,514 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005449.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FCMR | NM_005449.5 | c.890A>G | p.Glu297Gly | missense_variant | 6/8 | ENST00000367091.8 | NP_005440.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCMR | ENST00000367091.8 | c.890A>G | p.Glu297Gly | missense_variant | 6/8 | 1 | NM_005449.5 | ENSP00000356058.3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000466 AC: 1AN: 21444Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 11452
GnomAD4 exome AF: 0.0000890 AC: 112AN: 1258246Hom.: 2 Cov.: 31 AF XY: 0.000103 AC XY: 63AN XY: 612632
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152268Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74448
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 25, 2024 | The c.890A>G (p.E297G) alteration is located in exon 6 (coding exon 6) of the FCMR gene. This alteration results from a A to G substitution at nucleotide position 890, causing the glutamic acid (E) at amino acid position 297 to be replaced by a glycine (G). 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