chr10-69572420-C-G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 2P and 11B. PM2BP4_StrongBP6_ModerateBP7BS1
The NM_020999.4(NEUROG3):c.624G>C(p.Leu208=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000334 in 1,588,478 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 (★). Synonymous variant affecting the same amino acid position (i.e. L208L) has been classified as Likely benign.
Frequency
Consequence
NM_020999.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEUROG3 | NM_020999.4 | c.624G>C | p.Leu208= | synonymous_variant | 2/2 | ENST00000242462.5 | |
NEUROG3 | XM_017016280.2 | c.624G>C | p.Leu208= | synonymous_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEUROG3 | ENST00000242462.5 | c.624G>C | p.Leu208= | synonymous_variant | 2/2 | 1 | NM_020999.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152200Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000208 AC: 43AN: 206992Hom.: 0 AF XY: 0.000157 AC XY: 18AN XY: 114430
GnomAD4 exome AF: 0.0000320 AC: 46AN: 1436278Hom.: 0 Cov.: 29 AF XY: 0.0000238 AC XY: 17AN XY: 713920
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152200Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74358
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 13, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at