chrX-54073221-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_017848.6(FAM120C):c.3103G>A(p.Gly1035Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000207 in 1,208,122 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 11 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017848.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000180 AC: 2AN: 110880Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 33088
GnomAD4 exome AF: 0.0000210 AC: 23AN: 1097242Hom.: 0 Cov.: 30 AF XY: 0.0000303 AC XY: 11AN XY: 362622
GnomAD4 genome AF: 0.0000180 AC: 2AN: 110880Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 33088
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3103G>A (p.G1035R) alteration is located in exon 16 (coding exon 16) of the FAM120C gene. This alteration results from a G to A substitution at nucleotide position 3103, causing the glycine (G) at amino acid position 1035 to be replaced by an arginine (R). 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