16-85099195-T-C
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_198491.3(CIBAR2):c.905A>G(p.His302Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000038 in 1,579,614 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198491.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CIBAR2 | NM_198491.3 | c.905A>G | p.His302Arg | missense_variant | Exon 9 of 9 | ENST00000539556.6 | NP_940893.1 | |
CIBAR2 | XM_011523063.2 | c.905A>G | p.His302Arg | missense_variant | Exon 9 of 10 | XP_011521365.1 | ||
CIBAR2 | NM_001366920.1 | c.754-514A>G | intron_variant | Intron 8 of 8 | NP_001353849.1 | |||
CIBAR2 | XM_017023198.2 | c.832+73A>G | intron_variant | Intron 9 of 9 | XP_016878687.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CIBAR2 | ENST00000539556.6 | c.905A>G | p.His302Arg | missense_variant | Exon 9 of 9 | 5 | NM_198491.3 | ENSP00000443411.1 | ||
CIBAR2 | ENST00000618669.3 | c.469-514A>G | intron_variant | Intron 6 of 6 | 5 | ENSP00000478373.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152130Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000447 AC: 10AN: 223822 AF XY: 0.0000248 show subpopulations
GnomAD4 exome AF: 0.00000350 AC: 5AN: 1427484Hom.: 0 Cov.: 30 AF XY: 0.00000283 AC XY: 2AN XY: 707918 show subpopulations
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74316 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.905A>G (p.H302R) alteration is located in exon 9 (coding exon 9) of the FAM92B gene. This alteration results from a A to G substitution at nucleotide position 905, causing the histidine (H) at amino acid position 302 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