chr17-41034328-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030966.2(KRTAP1-3):c.494C>T(p.Pro165Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000238 in 1,557,206 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P165S) has been classified as Uncertain significance.
Frequency
Consequence
NM_030966.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRTAP1-3 | NM_030966.2 | c.494C>T | p.Pro165Leu | missense_variant | 1/1 | ENST00000344363.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRTAP1-3 | ENST00000344363.7 | c.494C>T | p.Pro165Leu | missense_variant | 1/1 | NM_030966.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000331 AC: 7AN: 211170Hom.: 0 AF XY: 0.0000440 AC XY: 5AN XY: 113560
GnomAD4 exome AF: 0.0000228 AC: 32AN: 1404908Hom.: 0 Cov.: 30 AF XY: 0.0000275 AC XY: 19AN XY: 691528
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152298Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 29, 2021 | The c.494C>T (p.P165L) alteration is located in exon 1 (coding exon 1) of the KRTAP1-3 gene. This alteration results from a C to T substitution at nucleotide position 494, causing the proline (P) at amino acid position 165 to be replaced by a leucine (L). 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