2-108470255-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_181453.4(GCC2):āc.926C>Gā(p.Ala309Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000254 in 1,613,278 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_181453.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152084Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249856Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135140
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461194Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 726908
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152084Hom.: 1 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74298
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 03, 2024 | The c.926C>G (p.A309G) alteration is located in exon 6 (coding exon 6) of the GCC2 gene. This alteration results from a C to G substitution at nucleotide position 926, causing the alanine (A) at amino acid position 309 to be replaced by a glycine (G). 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