11-72004750-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_006185.4(NUMA1):c.5896C>T(p.Arg1966Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000354 in 1,610,266 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: 0.000178 AC: 27AN: 152084Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000769 AC: 19AN: 247054Hom.: 0 AF XY: 0.0000598 AC XY: 8AN XY: 133694
GnomAD4 exome AF: 0.0000206 AC: 30AN: 1458064Hom.: 0 Cov.: 32 AF XY: 0.0000207 AC XY: 15AN XY: 725378
GnomAD4 genome AF: 0.000177 AC: 27AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.000228 AC XY: 17AN XY: 74402
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5896C>T (p.R1966C) alteration is located in exon 24 (coding exon 22) of the NUMA1 gene. This alteration results from a C to T substitution at nucleotide position 5896, causing the arginine (R) at amino acid position 1966 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