NM_001289808.2:c.60C>G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001289808.2(CRYAB):c.60C>G(p.Pro20Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,456,154 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P20P) has been classified as Benign.
Frequency
Consequence
NM_001289808.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRYAB | NM_001289808.2 | c.60C>G | p.Pro20Pro | synonymous_variant | Exon 1 of 3 | ENST00000650687.2 | NP_001276737.1 | |
CRYAB | NM_001289807.1 | c.60C>G | p.Pro20Pro | synonymous_variant | Exon 2 of 4 | NP_001276736.1 | ||
CRYAB | NM_001368245.1 | c.60C>G | p.Pro20Pro | synonymous_variant | Exon 2 of 4 | NP_001355174.1 | ||
CRYAB | NM_001885.3 | c.60C>G | p.Pro20Pro | synonymous_variant | Exon 2 of 4 | NP_001876.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000126 AC: 3AN: 237432Hom.: 0 AF XY: 0.00000781 AC XY: 1AN XY: 128096
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1456154Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 723598
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Dilated cardiomyopathy 1II Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at