2-171541683-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024843.4(CYBRD1):āc.292A>Gā(p.Ile98Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,782 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_024843.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYBRD1 | NM_024843.4 | c.292A>G | p.Ile98Val | missense_variant | 2/4 | ENST00000321348.9 | NP_079119.3 | |
CYBRD1 | NM_001256909.2 | c.118A>G | p.Ile40Val | missense_variant | 2/4 | NP_001243838.1 | ||
CYBRD1 | NM_001127383.2 | c.194-11663A>G | intron_variant | NP_001120855.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYBRD1 | ENST00000321348.9 | c.292A>G | p.Ile98Val | missense_variant | 2/4 | 1 | NM_024843.4 | ENSP00000319141 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461782Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 727206
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2023 | The c.292A>G (p.I98V) alteration is located in exon 2 (coding exon 2) of the CYBRD1 gene. This alteration results from a A to G substitution at nucleotide position 292, causing the isoleucine (I) at amino acid position 98 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.