rs14122
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_001376256.1(CRYM):c.864C>T(p.Thr288=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000267 in 1,613,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T288T) has been classified as Benign.
Frequency
Consequence
NM_001376256.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRYM | NM_001376256.1 | c.864C>T | p.Thr288= | synonymous_variant | 7/8 | ENST00000572914.2 | |
CRYM | NM_001888.5 | c.864C>T | p.Thr288= | synonymous_variant | 9/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRYM | ENST00000572914.2 | c.864C>T | p.Thr288= | synonymous_variant | 7/8 | 2 | NM_001376256.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000198 AC: 3AN: 151772Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251314Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135846
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1461308Hom.: 0 Cov.: 34 AF XY: 0.0000261 AC XY: 19AN XY: 727012
GnomAD4 genome ? AF: 0.0000198 AC: 3AN: 151772Hom.: 0 Cov.: 30 AF XY: 0.0000270 AC XY: 2AN XY: 74104
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at