4-124669835-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020337.3(ANKRD50):c.3442C>T(p.Pro1148Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,612,474 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020337.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD50 | NM_020337.3 | c.3442C>T | p.Pro1148Ser | missense_variant | 4/5 | ENST00000504087.6 | |
ANKRD50 | NM_001167882.2 | c.2905C>T | p.Pro969Ser | missense_variant | 3/4 | ||
ANKRD50 | XM_017008471.2 | c.3442C>T | p.Pro1148Ser | missense_variant | 3/4 | ||
ANKRD50 | XM_047415992.1 | c.3442C>T | p.Pro1148Ser | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD50 | ENST00000504087.6 | c.3442C>T | p.Pro1148Ser | missense_variant | 4/5 | 2 | NM_020337.3 | P1 | |
ANKRD50 | ENST00000515641.1 | c.2905C>T | p.Pro969Ser | missense_variant | 3/4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152034Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460440Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 726528
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152034Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74250
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 31, 2023 | The c.3442C>T (p.P1148S) alteration is located in exon 4 (coding exon 3) of the ANKRD50 gene. This alteration results from a C to T substitution at nucleotide position 3442, causing the proline (P) at amino acid position 1148 to be replaced by a serine (S). 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