NM_024053.5:c.310+721G>A
Variant names:
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_024053.5(CENPM):c.310+721G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0026 in 245,584 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 0.0021 ( 0 hom., cov: 30)
Exomes 𝑓: 0.0034 ( 0 hom. )
Consequence
CENPM
NM_024053.5 intron
NM_024053.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.165
Genes affected
CENPM (HGNC:18352): (centromere protein M) The protein encoded by this gene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive centromere-associated network protein group, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
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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=-0.81).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CENPM | NM_024053.5 | c.310+721G>A | intron_variant | Intron 4 of 5 | ENST00000215980.10 | NP_076958.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00210 AC: 315AN: 150312Hom.: 0 Cov.: 30
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GnomAD4 exome AF: 0.00340 AC: 324AN: 95192Hom.: 0 AF XY: 0.00335 AC XY: 153AN XY: 45694
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GnomAD4 genome AF: 0.00209 AC: 315AN: 150392Hom.: 0 Cov.: 30 AF XY: 0.00211 AC XY: 155AN XY: 73292
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ClinVar
Not reported inComputational scores
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Benign
CADD
Benign
DANN
Benign
Splicing
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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