2-196989642-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001195144.2(ANKRD44):c.2931G>T(p.Arg977Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000194 in 1,550,084 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R977G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001195144.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD44 | NM_001195144.2 | c.2931G>T | p.Arg977Ser | missense_variant | 28/28 | ENST00000282272.15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD44 | ENST00000282272.15 | c.2931G>T | p.Arg977Ser | missense_variant | 28/28 | 5 | NM_001195144.2 | P4 | |
ANKRD44 | ENST00000424317.5 | c.2368+3941G>T | intron_variant | 1 | |||||
ANKRD44 | ENST00000647377.1 | c.*1038G>T | 3_prime_UTR_variant | 28/28 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152114Hom.: 0 Cov.: 32
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1397970Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 689516
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2022 | The c.2931G>T (p.R977S) alteration is located in exon 28 (coding exon 28) of the ANKRD44 gene. This alteration results from a G to T substitution at nucleotide position 2931, causing the arginine (R) at amino acid position 977 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