chr1-6825174-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_015215.4(CAMTA1):c.198T>C(p.Ser66=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000174 in 1,610,500 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.00088 ( 0 hom., cov: 32)
Exomes 𝑓: 0.00010 ( 2 hom. )
Consequence
CAMTA1
NM_015215.4 synonymous
NM_015215.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 2.80
Genes affected
CAMTA1 (HGNC:18806): (calmodulin binding transcription activator 1) The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.47).
BP6
?
Variant 1-6825174-T-C is Benign according to our data. Variant chr1-6825174-T-C is described in ClinVar as [Benign]. Clinvar id is 777870.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00088 (134/152326) while in subpopulation AFR AF= 0.00301 (125/41578). AF 95% confidence interval is 0.00258. There are 0 homozygotes in gnomad4. There are 59 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High AC in GnomAd at 134 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CAMTA1 | NM_015215.4 | c.198T>C | p.Ser66= | synonymous_variant | 3/23 | ENST00000303635.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAMTA1 | ENST00000303635.12 | c.198T>C | p.Ser66= | synonymous_variant | 3/23 | 1 | NM_015215.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000880 AC: 134AN: 152208Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.000302 AC: 75AN: 248596Hom.: 2 AF XY: 0.000223 AC XY: 30AN XY: 134438
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GnomAD4 exome AF: 0.000100 AC: 146AN: 1458174Hom.: 2 Cov.: 28 AF XY: 0.0000744 AC XY: 54AN XY: 725436
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GnomAD4 genome ? AF: 0.000880 AC: 134AN: 152326Hom.: 0 Cov.: 32 AF XY: 0.000792 AC XY: 59AN XY: 74486
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Oct 09, 2023 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at