chr14-104951177-T-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_138420.4(AHNAK2):āc.4274A>Cā(p.Asp1425Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000812 in 1,071,286 control chromosomes in the GnomAD database, including 15 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_138420.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AHNAK2 | NM_138420.4 | c.4274A>C | p.Asp1425Ala | missense_variant | Exon 7 of 7 | ENST00000333244.6 | NP_612429.2 | |
AHNAK2 | NM_001350929.2 | c.3974A>C | p.Asp1325Ala | missense_variant | Exon 7 of 7 | NP_001337858.1 | ||
AHNAK2 | XM_024449463.2 | c.3974A>C | p.Asp1325Ala | missense_variant | Exon 7 of 7 | XP_024305231.1 | ||
AHNAK2 | XM_047430904.1 | c.3974A>C | p.Asp1325Ala | missense_variant | Exon 7 of 7 | XP_047286860.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AHNAK2 | ENST00000333244.6 | c.4274A>C | p.Asp1425Ala | missense_variant | Exon 7 of 7 | 5 | NM_138420.4 | ENSP00000353114.4 | ||
AHNAK2 | ENST00000557457.1 | c.-221+2704A>C | intron_variant | Intron 1 of 2 | 1 | ENSP00000450998.1 | ||||
AHNAK2 | ENST00000555122.1 | n.4402A>C | non_coding_transcript_exon_variant | Exon 6 of 6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000374 AC: 40AN: 107024Hom.: 6 Cov.: 18
GnomAD3 exomes AF: 0.000208 AC: 37AN: 178006Hom.: 9 AF XY: 0.000148 AC XY: 14AN XY: 94904
GnomAD4 exome AF: 0.0000487 AC: 47AN: 964140Hom.: 9 Cov.: 86 AF XY: 0.0000272 AC XY: 13AN XY: 478740
GnomAD4 genome AF: 0.000373 AC: 40AN: 107146Hom.: 6 Cov.: 18 AF XY: 0.000382 AC XY: 20AN XY: 52408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at