chr11-94498143-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_017704.3(ANKRD49):c.331C>T(p.Pro111Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017704.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD49 | NM_017704.3 | c.331C>T | p.Pro111Ser | missense_variant | Exon 3 of 3 | ENST00000544612.6 | NP_060174.2 | |
ANKRD49 | XM_017017941.2 | c.331C>T | p.Pro111Ser | missense_variant | Exon 3 of 3 | XP_016873430.1 | ||
MRE11 | XM_011542837.3 | c.-105-5237G>A | intron_variant | Intron 1 of 19 | XP_011541139.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.331C>T (p.P111S) alteration is located in exon 3 (coding exon 2) of the ANKRD49 gene. This alteration results from a C to T substitution at nucleotide position 331, causing the proline (P) at amino acid position 111 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