chr7-44145740-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_000162.5(GCK):c.1020-10C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000773 in 1,423,474 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 Likely benign (★).
Frequency
Consequence
NM_000162.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000471 AC: 9AN: 191258Hom.: 0 AF XY: 0.0000383 AC XY: 4AN XY: 104548
GnomAD4 exome AF: 0.00000773 AC: 11AN: 1423474Hom.: 0 Cov.: 31 AF XY: 0.00000566 AC XY: 4AN XY: 706774
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Maturity onset diabetes mellitus in young Benign:1
Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs193922257 in MODY, yet. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at