chr10-69572450-G-A
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_020999.4(NEUROG3):c.594C>T(p.Thr198Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000139 in 1,437,076 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T198T) has been classified as Likely benign.
Frequency
Consequence
NM_020999.4 synonymous
Scores
Clinical Significance
Conservation
Publications
- congenital malabsorptive diarrhea 4Inheritance: AR Classification: STRONG, SUPPORTIVE Submitted by: Orphanet, PanelApp Australia, Genomics England PanelApp, Labcorp Genetics (formerly Invitae)
- permanent neonatal diabetes mellitusInheritance: AR Classification: STRONG Submitted by: Genomics England PanelApp
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ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD2 exomes AF: 0.00000490 AC: 1AN: 204052 AF XY: 0.00000888 show subpopulations
GnomAD4 exome AF: 0.00000139 AC: 2AN: 1437076Hom.: 0 Cov.: 37 AF XY: 0.00000280 AC XY: 2AN XY: 713678 show subpopulations
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at