NM_000420.3:c.2065G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000420.3(KEL):c.2065G>A(p.Asp689Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000187 in 1,606,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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_000420.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KEL | NM_000420.3 | c.2065G>A | p.Asp689Asn | missense_variant | Exon 19 of 19 | ENST00000355265.7 | NP_000411.1 | |
KEL | XM_005249993.2 | c.2101G>A | p.Asp701Asn | missense_variant | Exon 19 of 19 | XP_005250050.1 | ||
KEL | XM_047420357.1 | c.1954G>A | p.Asp652Asn | missense_variant | Exon 18 of 18 | XP_047276313.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151960Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248868Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134420
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1454726Hom.: 0 Cov.: 31 AF XY: 0.00000277 AC XY: 2AN XY: 722268
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151960Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74206
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at