7-142943837-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000420.3(KEL):c.1538G>A(p.Arg513Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000235 in 1,614,098 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KEL | NM_000420.3 | c.1538G>A | p.Arg513Gln | missense_variant | 14/19 | ENST00000355265.7 | |
KEL | XM_005249993.2 | c.1574G>A | p.Arg525Gln | missense_variant | 14/19 | ||
KEL | XM_047420357.1 | c.1427G>A | p.Arg476Gln | missense_variant | 13/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KEL | ENST00000355265.7 | c.1538G>A | p.Arg513Gln | missense_variant | 14/19 | 1 | NM_000420.3 | P1 | |
KEL | ENST00000465697.1 | n.399G>A | non_coding_transcript_exon_variant | 3/4 | 3 | ||||
KEL | ENST00000470850.1 | n.3G>A | non_coding_transcript_exon_variant | 1/4 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251284Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135814
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1461870Hom.: 0 Cov.: 33 AF XY: 0.0000206 AC XY: 15AN XY: 727234
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74414
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 13, 2022 | The c.1538G>A (p.R513Q) alteration is located in exon 14 (coding exon 14) of the KEL gene. This alteration results from a G to A substitution at nucleotide position 1538, causing the arginine (R) at amino acid position 513 to be replaced by a glutamine (Q). 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