5-56116649-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_024669.3(ANKRD55):āc.931A>Gā(p.Thr311Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000262 in 1,606,290 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_024669.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD55 | NM_024669.3 | c.931A>G | p.Thr311Ala | missense_variant | 9/12 | ENST00000341048.9 | |
ANKRD55 | XM_047417710.1 | c.445A>G | p.Thr149Ala | missense_variant | 5/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD55 | ENST00000341048.9 | c.931A>G | p.Thr311Ala | missense_variant | 9/12 | 2 | NM_024669.3 | P1 | |
ANKRD55 | ENST00000434982.2 | c.67A>G | p.Thr23Ala | missense_variant | 1/4 | 1 | |||
ANKRD55 | ENST00000504958.6 | c.802A>G | p.Thr268Ala | missense_variant | 7/10 | 5 | |||
ANKRD55 | ENST00000505970.2 | n.516A>G | non_coding_transcript_exon_variant | 5/7 | 3 |
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000207 AC: 50AN: 242078Hom.: 0 AF XY: 0.000190 AC XY: 25AN XY: 131258
GnomAD4 exome AF: 0.000272 AC: 396AN: 1453934Hom.: 0 Cov.: 30 AF XY: 0.000272 AC XY: 197AN XY: 723436
GnomAD4 genome AF: 0.000164 AC: 25AN: 152356Hom.: 0 Cov.: 33 AF XY: 0.000201 AC XY: 15AN XY: 74508
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 27, 2022 | The c.931A>G (p.T311A) alteration is located in exon 9 (coding exon 8) of the ANKRD55 gene. This alteration results from a A to G substitution at nucleotide position 931, causing the threonine (T) at amino acid position 311 to be replaced by an alanine (A). 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