11-72006074-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_006185.4(NUMA1):c.5653C>T(p.Arg1885Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000075 in 1,613,802 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_006185.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000757 AC: 19AN: 250964Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135684
GnomAD4 exome AF: 0.0000712 AC: 104AN: 1461582Hom.: 0 Cov.: 31 AF XY: 0.0000853 AC XY: 62AN XY: 727064
GnomAD4 genome AF: 0.000112 AC: 17AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.0000941 AC XY: 7AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5653C>T (p.R1885C) alteration is located in exon 22 (coding exon 20) of the NUMA1 gene. This alteration results from a C to T substitution at nucleotide position 5653, causing the arginine (R) at amino acid position 1885 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at