rs504574
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBP7
The NM_000037.4(ANK1):c.2913G>T(p.Leu971=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000608 in 1,613,048 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. L971L) has been classified as Benign.
Frequency
Consequence
NM_000037.4 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 |
---|---|---|---|---|---|---|---|
ANK1 | NM_000037.4 | c.2913G>T | p.Leu971= | synonymous_variant | 26/43 | ENST00000289734.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANK1 | ENST00000289734.13 | c.2913G>T | p.Leu971= | synonymous_variant | 26/43 | 1 | NM_000037.4 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152088Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 249342Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135236
GnomAD4 exome AF: 0.0000595 AC: 87AN: 1460960Hom.: 0 Cov.: 85 AF XY: 0.0000619 AC XY: 45AN XY: 726806
GnomAD4 genome ? AF: 0.0000723 AC: 11AN: 152088Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74294
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at