chr7-142941310-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000420.3(KEL):c.2141A>T(p.Tyr714Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00016 in 1,613,876 control chromosomes in the GnomAD database, with no homozygous occurrence. 14/21 in silico tools predict a benign 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KEL | NM_000420.3 | c.2141A>T | p.Tyr714Phe | missense_variant | Exon 19 of 19 | ENST00000355265.7 | NP_000411.1 | |
KEL | XM_005249993.2 | c.2177A>T | p.Tyr726Phe | missense_variant | Exon 19 of 19 | XP_005250050.1 | ||
KEL | XM_047420357.1 | c.2030A>T | p.Tyr677Phe | missense_variant | Exon 18 of 18 | XP_047276313.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152014Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000437 AC: 11AN: 251454Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135900
GnomAD4 exome AF: 0.000172 AC: 251AN: 1461862Hom.: 0 Cov.: 31 AF XY: 0.000162 AC XY: 118AN XY: 727226
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152014Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2141A>T (p.Y714F) alteration is located in exon 19 (coding exon 19) of the KEL gene. This alteration results from a A to T substitution at nucleotide position 2141, causing the tyrosine (Y) at amino acid position 714 to be replaced by a phenylalanine (F). 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