chr11-72005307-G-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_006185.4(NUMA1):c.5755C>T(p.Arg1919Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000112 in 1,608,458 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152230Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000818 AC: 2AN: 244388Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132504
GnomAD4 exome AF: 0.00000824 AC: 12AN: 1456228Hom.: 0 Cov.: 31 AF XY: 0.00000828 AC XY: 6AN XY: 724490
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152230Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5755C>T (p.R1919C) alteration is located in exon 23 (coding exon 21) of the NUMA1 gene. This alteration results from a C to T substitution at nucleotide position 5755, causing the arginine (R) at amino acid position 1919 to be replaced by a cysteine (C). 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