10-60181410-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_020987.5(ANK3):c.2103C>G(p.Leu701=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000229 in 1,614,050 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. L701L) has been classified as Likely benign.
Frequency
Consequence
NM_020987.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANK3 | NM_020987.5 | c.2103C>G | p.Leu701= | synonymous_variant | 18/44 | ENST00000280772.7 | |
ANK3 | NM_001204404.2 | c.2052C>G | p.Leu684= | synonymous_variant | 18/44 | ||
ANK3 | NM_001320874.2 | c.2103C>G | p.Leu701= | synonymous_variant | 18/43 | ||
ANK3 | NM_001204403.2 | c.2085C>G | p.Leu695= | synonymous_variant | 19/44 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANK3 | ENST00000280772.7 | c.2103C>G | p.Leu701= | synonymous_variant | 18/44 | 1 | NM_020987.5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251386Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135864
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461860Hom.: 0 Cov.: 31 AF XY: 0.0000275 AC XY: 20AN XY: 727236
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at