7-142941365-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000420.3(KEL):c.2086C>T(p.Pro696Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000617 in 1,459,454 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KEL | NM_000420.3 | c.2086C>T | p.Pro696Ser | missense_variant | Exon 19 of 19 | ENST00000355265.7 | NP_000411.1 | |
KEL | XM_005249993.2 | c.2122C>T | p.Pro708Ser | missense_variant | Exon 19 of 19 | XP_005250050.1 | ||
KEL | XM_047420357.1 | c.1975C>T | p.Pro659Ser | missense_variant | Exon 18 of 18 | XP_047276313.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250712Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135496
GnomAD4 exome AF: 0.00000617 AC: 9AN: 1459454Hom.: 0 Cov.: 31 AF XY: 0.00000551 AC XY: 4AN XY: 725466
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2086C>T (p.P696S) alteration is located in exon 19 (coding exon 19) of the KEL gene. This alteration results from a C to T substitution at nucleotide position 2086, causing the proline (P) at amino acid position 696 to be replaced by a serine (S). 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