chr14-104938067-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_138420.4(AHNAK2):āc.17384G>Cā(p.Gly5795Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,611,822 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_138420.4 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 |
---|---|---|---|---|---|---|---|
AHNAK2 | NM_138420.4 | c.17384G>C | p.Gly5795Ala | missense_variant | 7/7 | ENST00000333244.6 | |
AHNAK2 | NM_001350929.2 | c.17084G>C | p.Gly5695Ala | missense_variant | 7/7 | ||
AHNAK2 | XM_024449463.2 | c.17084G>C | p.Gly5695Ala | missense_variant | 7/7 | ||
AHNAK2 | XM_047430904.1 | c.17084G>C | p.Gly5695Ala | missense_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AHNAK2 | ENST00000333244.6 | c.17384G>C | p.Gly5795Ala | missense_variant | 7/7 | 5 | NM_138420.4 | P1 | |
AHNAK2 | ENST00000557457.1 | c.2378G>C | p.Gly793Ala | missense_variant | 3/3 | 1 | |||
AHNAK2 | ENST00000555122.1 | n.17512G>C | non_coding_transcript_exon_variant | 6/6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000807 AC: 2AN: 247794Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134414
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1459544Hom.: 0 Cov.: 73 AF XY: 0.0000179 AC XY: 13AN XY: 725750
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74448
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.17384G>C (p.G5795A) alteration is located in exon 7 (coding exon 7) of the AHNAK2 gene. This alteration results from a G to C substitution at nucleotide position 17384, causing the glycine (G) at amino acid position 5795 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