2-70981956-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001115116.2(ANKRD53):c.638C>T(p.Thr213Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000639 in 1,595,718 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001115116.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD53 | ENST00000360589.4 | c.638C>T | p.Thr213Met | missense_variant | Exon 4 of 6 | 2 | NM_001115116.2 | ENSP00000353796.3 | ||
ENSG00000258881 | ENST00000606025.5 | c.475+6959G>A | intron_variant | Intron 5 of 5 | 5 | ENSP00000475641.1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152246Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000592 AC: 14AN: 236654Hom.: 0 AF XY: 0.0000390 AC XY: 5AN XY: 128194
GnomAD4 exome AF: 0.0000637 AC: 92AN: 1443354Hom.: 0 Cov.: 31 AF XY: 0.0000544 AC XY: 39AN XY: 716958
GnomAD4 genome AF: 0.0000656 AC: 10AN: 152364Hom.: 0 Cov.: 32 AF XY: 0.0000671 AC XY: 5AN XY: 74512
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.638C>T (p.T213M) alteration is located in exon 4 (coding exon 4) of the ANKRD53 gene. This alteration results from a C to T substitution at nucleotide position 638, causing the threonine (T) at amino acid position 213 to be replaced by a methionine (M). 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