chr16-57020800-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001384950.1(NLRC5):c.88G>A(p.Ala30Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,156 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001384950.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NLRC5 | NM_001384950.1 | c.88G>A | p.Ala30Thr | missense_variant | 3/49 | ENST00000688547.1 | NP_001371879.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NLRC5 | ENST00000688547.1 | c.88G>A | p.Ala30Thr | missense_variant | 3/49 | NM_001384950.1 | ENSP00000509992 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00000662 AC: 1AN: 151162Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251450Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135904
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461878Hom.: 0 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 727242
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151278Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 73864
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 01, 2021 | The c.88G>A (p.A30T) alteration is located in exon 1 (coding exon 1) of the NLRC5 gene. This alteration results from a G to A substitution at nucleotide position 88, causing the alanine (A) at amino acid position 30 to be replaced by a threonine (T). 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