chr8-87353675-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173538.3(CNBD1):c.1192G>A(p.Glu398Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,450,468 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173538.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CNBD1 | NM_173538.3 | c.1192G>A | p.Glu398Lys | missense_variant | 10/11 | ENST00000518476.6 | |
CNBD1 | XM_017013149.2 | c.1192G>A | p.Glu398Lys | missense_variant | 10/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNBD1 | ENST00000518476.6 | c.1192G>A | p.Glu398Lys | missense_variant | 10/11 | 1 | NM_173538.3 | ||
CNBD1 | ENST00000523299.6 | c.1192G>A | p.Glu398Lys | missense_variant | 10/13 | 3 | P1 | ||
CNBD1 | ENST00000521593.5 | c.103G>A | p.Glu35Lys | missense_variant | 2/8 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450468Hom.: 0 Cov.: 28 AF XY: 0.00000139 AC XY: 1AN XY: 721028
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2022 | The c.1192G>A (p.E398K) alteration is located in exon 10 (coding exon 10) of the CNBD1 gene. This alteration results from a G to A substitution at nucleotide position 1192, causing the glutamic acid (E) at amino acid position 398 to be replaced by a lysine (K). 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.