NM_001206999.2:c.6140G>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001206999.2(CIT):c.6140G>A(p.Arg2047Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000201 in 1,494,026 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001206999.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152182Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000135 AC: 2AN: 148518Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82848
GnomAD4 exome AF: 7.45e-7 AC: 1AN: 1341726Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 658658
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152300Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74470
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.6140G>A (p.R2047Q) alteration is located in exon 47 (coding exon 46) of the CIT gene. This alteration results from a G to A substitution at nucleotide position 6140, causing the arginine (R) at amino acid position 2047 to be replaced by a glutamine (Q). 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