NM_198493.3:c.421T>C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_198493.3(ANKRD45):c.421T>C(p.Phe141Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,850 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_198493.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD45 | ENST00000333279.3 | c.421T>C | p.Phe141Leu | missense_variant | Exon 3 of 6 | 1 | NM_198493.3 | ENSP00000331268.2 | ||
ENSG00000285777 | ENST00000648193.1 | n.421T>C | non_coding_transcript_exon_variant | Exon 3 of 8 | ENSP00000498204.1 | |||||
ENSG00000289426 | ENST00000693292.1 | n.322+8887A>G | intron_variant | Intron 1 of 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251328Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135824
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461850Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727224
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.421T>C (p.F141L) alteration is located in exon 3 (coding exon 2) of the ANKRD45 gene. This alteration results from a T to C substitution at nucleotide position 421, causing the phenylalanine (F) at amino acid position 141 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