rs267607278
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_006888.6(CALM1):c.72C>A(p.Gly24Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,056 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.
Frequency
Consequence
NM_006888.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CALM1 | NM_006888.6 | c.72C>A | p.Gly24Gly | synonymous_variant | 3/6 | ENST00000356978.9 | NP_008819.1 | |
CALM1 | NM_001363670.2 | c.75C>A | p.Gly25Gly | synonymous_variant | 3/6 | NP_001350599.1 | ||
CALM1 | NM_001363669.2 | c.-37C>A | 5_prime_UTR_variant | 3/6 | NP_001350598.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251476Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135910
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461056Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726886
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at