chr2-30912318-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_024572.4(GALNT14):c.1405C>A(p.Gln469Lys) variant causes a missense change. The variant allele was found at a frequency of 0.233 in 1,613,674 control chromosomes in the GnomAD database, including 44,944 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_024572.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GALNT14 | NM_024572.4 | c.1405C>A | p.Gln469Lys | missense_variant | 14/15 | ENST00000349752.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GALNT14 | ENST00000349752.10 | c.1405C>A | p.Gln469Lys | missense_variant | 14/15 | 1 | NM_024572.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.214 AC: 32543AN: 151980Hom.: 3636 Cov.: 32
GnomAD3 exomes AF: 0.226 AC: 56846AN: 251290Hom.: 6647 AF XY: 0.231 AC XY: 31415AN XY: 135804
GnomAD4 exome AF: 0.235 AC: 343839AN: 1461576Hom.: 41307 Cov.: 33 AF XY: 0.236 AC XY: 171949AN XY: 727094
GnomAD4 genome ? AF: 0.214 AC: 32567AN: 152098Hom.: 3637 Cov.: 32 AF XY: 0.214 AC XY: 15875AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at