11-72005334-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM1BS2
The NM_006185.4(NUMA1):c.5728G>A(p.Glu1910Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,608,314 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152244Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000286 AC: 7AN: 244738Hom.: 0 AF XY: 0.0000226 AC XY: 3AN XY: 132720
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1456070Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 724474
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5728G>A (p.E1910K) alteration is located in exon 23 (coding exon 21) of the NUMA1 gene. This alteration results from a G to A substitution at nucleotide position 5728, causing the glutamic acid (E) at amino acid position 1910 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at