7-142942466-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000420.3(KEL):c.2005C>A(p.Pro669Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000420.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.2005C>A | p.Pro669Thr | missense_variant | Exon 18 of 19 | ENST00000355265.7 | NP_000411.1 | |
KEL | XM_005249993.2 | c.2041C>A | p.Pro681Thr | missense_variant | Exon 18 of 19 | XP_005250050.1 | ||
KEL | XM_047420357.1 | c.1894C>A | p.Pro632Thr | missense_variant | Exon 17 of 18 | XP_047276313.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KEL | ENST00000355265.7 | c.2005C>A | p.Pro669Thr | missense_variant | Exon 18 of 19 | 1 | NM_000420.3 | ENSP00000347409.2 | ||
KEL | ENST00000470850.1 | n.305C>A | non_coding_transcript_exon_variant | Exon 4 of 4 | 2 | |||||
KEL | ENST00000478969.1 | n.344C>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2005C>A (p.P669T) alteration is located in exon 18 (coding exon 18) of the KEL gene. This alteration results from a C to A substitution at nucleotide position 2005, causing the proline (P) at amino acid position 669 to be replaced by a threonine (T). 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