12-119690237-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001206999.2(CIT):c.6100C>T(p.Arg2034Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000582 in 1,547,418 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: 0.00000657 AC: 1AN: 152194Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000106 AC: 2AN: 188030Hom.: 0 AF XY: 0.00000945 AC XY: 1AN XY: 105794
GnomAD4 exome AF: 0.00000573 AC: 8AN: 1395224Hom.: 0 Cov.: 31 AF XY: 0.00000723 AC XY: 5AN XY: 692000
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152194Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.6100C>T (p.R2034W) alteration is located in exon 47 (coding exon 46) of the CIT gene. This alteration results from a C to T substitution at nucleotide position 6100, causing the arginine (R) at amino acid position 2034 to be replaced by a tryptophan (W). 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