ENST00000666786.1:n.60_61delGC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000666786.1(ENSG00000287898):n.60_61delGC variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000876 in 394,836 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
ENST00000666786.1 non_coding_transcript_exon
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: 0.00176 AC: 268AN: 151936Hom.: 1 Cov.: 33
GnomAD4 exome AF: 0.000325 AC: 79AN: 242786Hom.: 0 AF XY: 0.000326 AC XY: 39AN XY: 119496
GnomAD4 genome AF: 0.00176 AC: 267AN: 152050Hom.: 1 Cov.: 33 AF XY: 0.00182 AC XY: 135AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
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Maturity onset diabetes mellitus in young Uncertain:1
Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs902564696) in MODY yet. -
Transitory neonatal diabetes mellitus Uncertain:1
Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs902564696) in neonatal diabetes yet. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at