11-111911973-G-C
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBA1
The NM_001885.3(CRYAB):c.-198-51C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.275 in 509,026 control chromosomes in the GnomAD database, including 19,715 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001885.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRYAB | NM_001289807.1 | c.-198-51C>G | intron_variant | Intron 1 of 3 | NP_001276736.1 | |||
CRYAB | NM_001368245.1 | c.-198-51C>G | intron_variant | Intron 1 of 3 | NP_001355174.1 | |||
CRYAB | NM_001885.3 | c.-198-51C>G | intron_variant | Intron 1 of 3 | NP_001876.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CRYAB | ENST00000526180.6 | c.-224-25C>G | intron_variant | Intron 1 of 3 | 1 | ENSP00000436051.1 | ||||
CRYAB | ENST00000227251.7 | c.-148C>G | 5_prime_UTR_variant | Exon 1 of 4 | 5 | ENSP00000227251.3 | ||||
CRYAB | ENST00000651164.1 | c.-159C>G | 5_prime_UTR_variant | Exon 1 of 4 | ENSP00000498735.1 |
Frequencies
GnomAD3 genomes AF: 0.267 AC: 40580AN: 151920Hom.: 5630 Cov.: 31
GnomAD4 exome AF: 0.278 AC: 99208AN: 356988Hom.: 14087 Cov.: 0 AF XY: 0.277 AC XY: 52020AN XY: 187512
GnomAD4 genome AF: 0.267 AC: 40582AN: 152038Hom.: 5628 Cov.: 31 AF XY: 0.267 AC XY: 19830AN XY: 74322
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Dilated cardiomyopathy 1II Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at