rs61729041
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_000420.3(KEL):c.1217G>A(p.Arg406Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000039 in 1,613,580 control chromosomes in the GnomAD database, including 2 homozygotes. 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_000420.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KEL | NM_000420.3 | c.1217G>A | p.Arg406Gln | missense_variant | 11/19 | ENST00000355265.7 | NP_000411.1 | |
KEL | XM_005249993.2 | c.1253G>A | p.Arg418Gln | missense_variant | 11/19 | XP_005250050.1 | ||
KEL | XM_047420357.1 | c.1204-1563G>A | intron_variant | XP_047276313.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KEL | ENST00000355265.7 | c.1217G>A | p.Arg406Gln | missense_variant | 11/19 | 1 | NM_000420.3 | ENSP00000347409.2 | ||
KEL | ENST00000479768.6 | n.1626G>A | non_coding_transcript_exon_variant | 11/11 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000360 AC: 9AN: 250026Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135176
GnomAD4 exome AF: 0.0000390 AC: 57AN: 1461294Hom.: 2 Cov.: 30 AF XY: 0.0000440 AC XY: 32AN XY: 726866
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74466
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at