chr7-142941268-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000420.3(KEL):c.2183G>T(p.Arg728Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000226 in 1,461,844 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KEL | NM_000420.3 | c.2183G>T | p.Arg728Leu | missense_variant | Exon 19 of 19 | ENST00000355265.7 | NP_000411.1 | |
KEL | XM_005249993.2 | c.2219G>T | p.Arg740Leu | missense_variant | Exon 19 of 19 | XP_005250050.1 | ||
KEL | XM_047420357.1 | c.2072G>T | p.Arg691Leu | missense_variant | Exon 18 of 18 | XP_047276313.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251392Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135880
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461844Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 727228
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2183G>T (p.R728L) alteration is located in exon 19 (coding exon 19) of the KEL gene. This alteration results from a G to T substitution at nucleotide position 2183, causing the arginine (R) at amino acid position 728 to be replaced by a leucine (L). 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