chr11-17428382-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BA1
The NM_000352.6(ABCC8):c.1947G>A(p.Lys649Lys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.16 in 1,613,742 control chromosomes in the GnomAD database, including 22,375 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000352.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.166 AC: 25218AN: 152044Hom.: 2214 Cov.: 33
GnomAD3 exomes AF: 0.174 AC: 43615AN: 250856Hom.: 4271 AF XY: 0.178 AC XY: 24148AN XY: 135654
GnomAD4 exome AF: 0.160 AC: 233646AN: 1461580Hom.: 20159 Cov.: 33 AF XY: 0.163 AC XY: 118674AN XY: 727072
GnomAD4 genome AF: 0.166 AC: 25250AN: 152162Hom.: 2216 Cov.: 33 AF XY: 0.171 AC XY: 12737AN XY: 74382
ClinVar
Submissions by phenotype
not specified Benign:3
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Hyperinsulinemic hypoglycemia, familial, 1 Benign:3
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This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
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Diabetes mellitus, transient neonatal, 2 Benign:2
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
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not provided Benign:2
This variant is associated with the following publications: (PMID: 14551916) -
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Type 2 diabetes mellitus Uncertain:1
Mutations in ABCC8 gene are generally associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may respond to sulfonylureas. However, though the prevalence of rs1799858 in congenital hyperinsulinism of Infancy is seen, there is no sufficient evidence to show association of this variant with neonatal diabetes or MODY. -
Hereditary hyperinsulinism Benign:1
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Leucine-induced hypoglycemia Benign:1
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Diabetes mellitus, permanent neonatal 3 Benign:1
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Permanent neonatal diabetes mellitus Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at