17-75812135-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001080419.3(UNK):c.338C>A(p.Thr113Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080419.3 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 |
---|---|---|---|---|---|---|---|---|
UNK | NM_001080419.3 | c.338C>A | p.Thr113Lys | missense_variant | Exon 3 of 16 | ENST00000589666.6 | NP_001073888.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UNK | ENST00000589666.6 | c.338C>A | p.Thr113Lys | missense_variant | Exon 3 of 16 | 1 | NM_001080419.3 | ENSP00000464893.1 | ||
UNK | ENST00000592629.1 | n.*304C>A | non_coding_transcript_exon_variant | Exon 4 of 4 | 3 | ENSP00000466431.1 | ||||
UNK | ENST00000592629.1 | n.*304C>A | 3_prime_UTR_variant | Exon 4 of 4 | 3 | ENSP00000466431.1 | ||||
UNK | ENST00000586217.1 | n.-14C>A | upstream_gene_variant | 3 | ENSP00000466054.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.338C>A (p.T113K) alteration is located in exon 3 (coding exon 3) of the UNK gene. This alteration results from a C to A substitution at nucleotide position 338, causing the threonine (T) at amino acid position 113 to be replaced by a lysine (K). 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
Publications
No publications associated with this variant yet.