10-12760948-G-C
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_153498.4(CAMK1D):c.300G>C(p.Leu100=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000744 in 1,610,672 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_153498.4 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CAMK1D | NM_153498.4 | c.300G>C | p.Leu100= | splice_region_variant, synonymous_variant | 4/11 | ENST00000619168.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAMK1D | ENST00000619168.5 | c.300G>C | p.Leu100= | splice_region_variant, synonymous_variant | 4/11 | 1 | NM_153498.4 | P1 | |
CAMK1D | ENST00000378845.5 | c.300G>C | p.Leu100= | splice_region_variant, synonymous_variant | 4/10 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.000428 AC: 65AN: 152014Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000284 AC: 71AN: 250302Hom.: 0 AF XY: 0.000251 AC XY: 34AN XY: 135300
GnomAD4 exome AF: 0.000777 AC: 1133AN: 1458540Hom.: 0 Cov.: 31 AF XY: 0.000747 AC XY: 542AN XY: 725420
GnomAD4 genome ? AF: 0.000427 AC: 65AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.000336 AC XY: 25AN XY: 74344
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 20, 2023 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at