X-37694444-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PP3_Strong
The NM_021083.4(XK):c.404C>T(p.Ala135Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000126 in 1,194,325 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A135A) has been classified as Likely benign.
Frequency
Consequence
NM_021083.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
XK | NM_021083.4 | c.404C>T | p.Ala135Val | missense_variant | 2/3 | ENST00000378616.5 | |
XK | XM_011543978.4 | c.404C>T | p.Ala135Val | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
XK | ENST00000378616.5 | c.404C>T | p.Ala135Val | missense_variant | 2/3 | 1 | NM_021083.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000268 AC: 3AN: 112069Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34207
GnomAD3 exomes AF: 0.0000591 AC: 9AN: 152291Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 46779
GnomAD4 exome AF: 0.0000111 AC: 12AN: 1082256Hom.: 0 Cov.: 32 AF XY: 0.00000568 AC XY: 2AN XY: 352078
GnomAD4 genome ? AF: 0.0000268 AC: 3AN: 112069Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34207
ClinVar
Submissions by phenotype
McLeod neuroacanthocytosis syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Jul 19, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at