11-69654151-C-A
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Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_053056.3(CCND1):c.*2869C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000751 in 665,852 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
Genomes: 𝑓 0.0000066 ( 0 hom., cov: 32)
Exomes 𝑓: 0.0000078 ( 0 hom. )
Consequence
CCND1
NM_053056.3 3_prime_UTR
NM_053056.3 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.528
Genes affected
CCND1 (HGNC:1582): (cyclin D1) The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]
LTO1 (HGNC:17589): (LTO1 maturation factor of ABCE1) Involved in protein maturation by [4Fe-4S] cluster transfer; ribosomal large subunit biogenesis; and translational initiation. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.71).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCND1 | NM_053056.3 | c.*2869C>A | 3_prime_UTR_variant | 5/5 | ENST00000227507.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCND1 | ENST00000227507.3 | c.*2869C>A | 3_prime_UTR_variant | 5/5 | 1 | NM_053056.3 | P1 | ||
LTO1 | ENST00000538554.6 | c.651+7G>T | splice_region_variant, intron_variant | 2 | |||||
LTO1 | ENST00000542515.5 | n.2058+7G>T | splice_region_variant, intron_variant, non_coding_transcript_variant | 2 | |||||
LTO1 | ENST00000569105.5 | n.549+7G>T | splice_region_variant, intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151576Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.0000158 AC: 2AN: 126938Hom.: 0 AF XY: 0.0000145 AC XY: 1AN XY: 69080
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GnomAD4 exome AF: 0.00000778 AC: 4AN: 514276Hom.: 0 Cov.: 0 AF XY: 0.00000716 AC XY: 2AN XY: 279344
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GnomAD4 genome AF: 0.00000660 AC: 1AN: 151576Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74046
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at