chr22-26602004-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001887.4(CRYBB1):c.450A>T(p.Lys150Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000205 in 1,461,588 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K150E) has been classified as Uncertain significance.
Frequency
Consequence
NM_001887.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRYBB1 | NM_001887.4 | c.450A>T | p.Lys150Asn | missense_variant | 5/6 | ENST00000647684.1 | |
CRYBB1 | XM_011529899.4 | c.450A>T | p.Lys150Asn | missense_variant | 5/6 | ||
CRYBA4 | XM_006724140.4 | c.-239+4921T>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRYBB1 | ENST00000647684.1 | c.450A>T | p.Lys150Asn | missense_variant | 5/6 | NM_001887.4 | P1 | ||
ENST00000668614.1 | n.56+4921T>A | intron_variant, non_coding_transcript_variant | |||||||
CRYBB1 | ENST00000647569.1 | n.262A>T | non_coding_transcript_exon_variant | 3/3 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461588Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 727120
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 03, 2022 | The c.450A>T (p.K150N) alteration is located in exon 5 (coding exon 4) of the CRYBB1 gene. This alteration results from a A to T substitution at nucleotide position 450, causing the lysine (K) at amino acid position 150 to be replaced by an asparagine (N). 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