chr11-66605713-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005125.2(CCS):āc.683G>Cā(p.Gly228Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000102 in 1,583,668 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005125.2 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: 0.0000394 AC: 6AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000889 AC: 20AN: 225044Hom.: 0 AF XY: 0.000140 AC XY: 17AN XY: 121640
GnomAD4 exome AF: 0.000109 AC: 156AN: 1431362Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 96AN XY: 709750
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.683G>C (p.G228A) alteration is located in exon 8 (coding exon 8) of the CCS gene. This alteration results from a G to C substitution at nucleotide position 683, causing the glycine (G) at amino acid position 228 to be replaced by an alanine (A). 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