11-59124352-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_198947.4(FAM111B):c.255G>C(p.Leu85Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000985 in 1,613,630 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198947.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM111B | NM_198947.4 | c.255G>C | p.Leu85Phe | missense_variant | 4/4 | ENST00000343597.4 | |
FAM111B | NM_001142703.2 | c.165G>C | p.Leu55Phe | missense_variant | 3/3 | ||
FAM111B | NM_001142704.2 | c.165G>C | p.Leu55Phe | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM111B | ENST00000343597.4 | c.255G>C | p.Leu85Phe | missense_variant | 4/4 | 1 | NM_198947.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152106Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000678 AC: 17AN: 250920Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135598
GnomAD4 exome AF: 0.000104 AC: 152AN: 1461524Hom.: 0 Cov.: 32 AF XY: 0.0000949 AC XY: 69AN XY: 727056
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152106Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74306
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 18, 2021 | The c.255G>C (p.L85F) alteration is located in exon 4 (coding exon 2) of the FAM111B gene. This alteration results from a G to C substitution at nucleotide position 255, causing the leucine (L) at amino acid position 85 to be replaced by a phenylalanine (F). 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