2-189677050-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001378068.1(ANKAR):c.560C>T(p.Pro187Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000472 in 1,587,678 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 Uncertain significance (★).
Frequency
Consequence
NM_001378068.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKAR | NM_001378068.1 | c.560C>T | p.Pro187Leu | missense_variant | Exon 2 of 23 | ENST00000684021.1 | NP_001364997.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152130Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000226 AC: 5AN: 221448Hom.: 0 AF XY: 0.0000248 AC XY: 3AN XY: 120872
GnomAD4 exome AF: 0.0000481 AC: 69AN: 1435548Hom.: 0 Cov.: 31 AF XY: 0.0000490 AC XY: 35AN XY: 713628
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152130Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.560C>T (p.P187L) alteration is located in exon 2 (coding exon 1) of the ANKAR gene. This alteration results from a C to T substitution at nucleotide position 560, causing the proline (P) at amino acid position 187 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at