10-37132246-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_052997.3(ANKRD30A):c.517C>T(p.Leu173Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000246 in 1,585,146 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052997.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD30A | ENST00000361713.2 | c.517C>T | p.Leu173Phe | missense_variant | Exon 4 of 36 | 5 | NM_052997.3 | ENSP00000354432.2 | ||
ANKRD30A | ENST00000374660.7 | c.517C>T | p.Leu173Phe | missense_variant | Exon 4 of 42 | 5 | ENSP00000363792.2 | |||
ANKRD30A | ENST00000602533.7 | c.517C>T | p.Leu173Phe | missense_variant | Exon 4 of 36 | 5 | ENSP00000473551.2 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152132Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000260 AC: 6AN: 231140Hom.: 0 AF XY: 0.0000239 AC XY: 3AN XY: 125400
GnomAD4 exome AF: 0.0000161 AC: 23AN: 1433014Hom.: 0 Cov.: 29 AF XY: 0.00000844 AC XY: 6AN XY: 711152
GnomAD4 genome AF: 0.000105 AC: 16AN: 152132Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.349C>T (p.L117F) alteration is located in exon 4 (coding exon 4) of the ANKRD30A gene. This alteration results from a C to T substitution at nucleotide position 349, causing the leucine (L) at amino acid position 117 to be replaced by a phenylalanine (F). 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