rs77169590
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBS1BS2
The NM_000246.4(CIITA):c.370C>A(p.Pro124Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000706 in 1,613,836 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. P124P) has been classified as Likely benign.
Frequency
Consequence
NM_000246.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CIITA | NM_000246.4 | c.370C>A | p.Pro124Thr | missense_variant | 5/20 | ENST00000324288.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CIITA | ENST00000324288.14 | c.370C>A | p.Pro124Thr | missense_variant | 5/20 | 1 | NM_000246.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00371 AC: 564AN: 151842Hom.: 5 Cov.: 31
GnomAD3 exomes AF: 0.00106 AC: 267AN: 251492Hom.: 0 AF XY: 0.000692 AC XY: 94AN XY: 135920
GnomAD4 exome AF: 0.000393 AC: 574AN: 1461876Hom.: 1 Cov.: 32 AF XY: 0.000327 AC XY: 238AN XY: 727236
GnomAD4 genome AF: 0.00372 AC: 565AN: 151960Hom.: 5 Cov.: 31 AF XY: 0.00347 AC XY: 258AN XY: 74262
ClinVar
Submissions by phenotype
MHC class II deficiency Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
CIITA-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 11, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at