NM_000420.3:c.965C>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000420.3(KEL):c.965C>T(p.Ala322Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000607 in 1,614,082 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_000420.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KEL | NM_000420.3 | c.965C>T | p.Ala322Val | missense_variant | Exon 9 of 19 | ENST00000355265.7 | NP_000411.1 | |
KEL | XM_005249993.2 | c.1001C>T | p.Ala334Val | missense_variant | Exon 9 of 19 | XP_005250050.1 | ||
KEL | XM_047420357.1 | c.965C>T | p.Ala322Val | missense_variant | Exon 9 of 18 | XP_047276313.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251332Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135822
GnomAD4 exome AF: 0.0000623 AC: 91AN: 1461826Hom.: 0 Cov.: 33 AF XY: 0.0000866 AC XY: 63AN XY: 727216
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152256Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74450
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at