chr1-206909736-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005449.5(FCMR):āc.974C>Gā(p.Ala325Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000619 in 1,454,100 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Synonymous variant affecting the same amino acid position (i.e. A325A) has been classified as Likely benign.
Frequency
Consequence
NM_005449.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FCMR | NM_005449.5 | c.974C>G | p.Ala325Gly | missense_variant | 6/8 | ENST00000367091.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FCMR | ENST00000367091.8 | c.974C>G | p.Ala325Gly | missense_variant | 6/8 | 1 | NM_005449.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000182 AC: 1AN: 54948Hom.: 0 AF XY: 0.0000306 AC XY: 1AN XY: 32676
GnomAD4 exome AF: 0.00000307 AC: 4AN: 1301966Hom.: 0 Cov.: 31 AF XY: 0.00000468 AC XY: 3AN XY: 640546
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 28, 2024 | The c.974C>G (p.A325G) alteration is located in exon 6 (coding exon 6) of the FCMR gene. This alteration results from a C to G substitution at nucleotide position 974, causing the alanine (A) at amino acid position 325 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