rs61729034
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_000420.3(KEL):c.905T>C(p.Val302Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00156 in 1,611,412 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict 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 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 | UniProt |
---|---|---|---|---|---|---|---|
KEL | NM_000420.3 | c.905T>C | p.Val302Ala | missense_variant | 8/19 | ENST00000355265.7 | |
KEL | XM_005249993.2 | c.941T>C | p.Val314Ala | missense_variant | 8/19 | ||
KEL | XM_047420357.1 | c.905T>C | p.Val302Ala | missense_variant | 8/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KEL | ENST00000355265.7 | c.905T>C | p.Val302Ala | missense_variant | 8/19 | 1 | NM_000420.3 | P1 | |
KEL | ENST00000479768.6 | n.1023T>C | non_coding_transcript_exon_variant | 8/11 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000914 AC: 139AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00112 AC: 279AN: 248760Hom.: 0 AF XY: 0.00121 AC XY: 163AN XY: 134668
GnomAD4 exome AF: 0.00163 AC: 2373AN: 1459202Hom.: 3 Cov.: 33 AF XY: 0.00152 AC XY: 1102AN XY: 726000
GnomAD4 genome ? AF: 0.000913 AC: 139AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.000900 AC XY: 67AN XY: 74414
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at