1-145960381-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001039888.4(ANKRD34A):c.1379G>T(p.Gly460Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000682 in 1,613,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 6/9 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001039888.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD34A | ENST00000606888.3 | c.1379G>T | p.Gly460Val | missense_variant | Exon 4 of 4 | 2 | NM_001039888.4 | ENSP00000475189.1 | ||
ENSG00000280778 | ENST00000625258.1 | c.-29-16703C>A | intron_variant | Intron 1 of 3 | 5 | ENSP00000487094.1 | ||||
ENSG00000280778 | ENST00000630636.1 | n.713+1277C>A | intron_variant | Intron 3 of 5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 248618Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134950
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461614Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 727106
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1379G>T (p.G460V) alteration is located in exon 4 (coding exon 1) of the ANKRD34A gene. This alteration results from a G to T substitution at nucleotide position 1379, causing the glycine (G) at amino acid position 460 to be replaced by a valine (V). 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