6-106539495-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001371242.2(CRYBG1):c.4811A>T(p.Glu1604Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 31)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
CRYBG1
NM_001371242.2 missense
NM_001371242.2 missense
Scores
2
12
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.26
Genes affected
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRYBG1 | NM_001371242.2 | c.4811A>T | p.Glu1604Val | missense_variant | 9/22 | ENST00000633556.3 | |
CRYBG1 | NM_001624.4 | c.3587A>T | p.Glu1196Val | missense_variant | 7/20 | ||
CRYBG1 | XM_047418270.1 | c.4889A>T | p.Glu1630Val | missense_variant | 10/23 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRYBG1 | ENST00000633556.3 | c.4811A>T | p.Glu1604Val | missense_variant | 9/22 | 5 | NM_001371242.2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 genomes
?
Cov.:
31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1461496Hom.: 0 Cov.: 45 AF XY: 0.00 AC XY: 0AN XY: 727066
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
1461496
Hom.:
Cov.:
45
AF XY:
AC XY:
0
AN XY:
727066
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
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Gnomad4 FIN exome
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Gnomad4 NFE exome
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Gnomad4 OTH exome
AF:
GnomAD4 genome ? Cov.: 31
GnomAD4 genome
?
Cov.:
31
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Uncertain
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
D
LIST_S2
Benign
T;T
M_CAP
Benign
T
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationTaster
Benign
P
PrimateAI
Benign
T
Sift4G
Uncertain
D;D
Polyphen
0.0020
.;B
Vest4
MutPred
0.60
.;Gain of sheet (P = 0.0344);
MVP
0.57
MPC
0.10
ClinPred
T
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
DS_DL_spliceai
Position offset: 34
Find out detailed SpliceAI scores and Pangolin per-transcript scores at