ENST00000506722.5:c.-39-203T>C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The ENST00000506722.5(ANK2):c.-39-203T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0844 in 152,240 control chromosomes in the GnomAD database, including 1,222 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
ENST00000506722.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANK2 | NM_001386142.1 | c.-39-203T>C | intron_variant | Intron 1 of 44 | NP_001373071.1 | |||
ANK2 | NM_001386143.1 | c.-39-203T>C | intron_variant | Intron 1 of 47 | NP_001373072.1 | |||
ANK2 | NM_001386186.2 | c.72+198035T>C | intron_variant | Intron 1 of 46 | NP_001373115.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANK2 | ENST00000506722.5 | c.-39-203T>C | intron_variant | Intron 1 of 46 | 1 | ENSP00000421067.1 | ||||
ANK2 | ENST00000672209.1 | c.-39-203T>C | intron_variant | Intron 1 of 47 | ENSP00000499982.1 | |||||
ANK2 | ENST00000673298.1 | c.-39-203T>C | intron_variant | Intron 1 of 46 | ENSP00000500245.1 |
Frequencies
GnomAD3 genomes AF: 0.0844 AC: 12840AN: 152122Hom.: 1218 Cov.: 32
GnomAD4 genome AF: 0.0844 AC: 12852AN: 152240Hom.: 1222 Cov.: 32 AF XY: 0.0810 AC XY: 6028AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at