3-46020960-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001024644.2(XCR1):c.988G>A(p.Ala330Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,611,738 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001024644.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
XCR1 | NM_001024644.2 | c.988G>A | p.Ala330Thr | missense_variant | Exon 2 of 2 | ENST00000309285.4 | NP_001019815.1 | |
XCR1 | NM_001381860.1 | c.988G>A | p.Ala330Thr | missense_variant | Exon 4 of 4 | NP_001368789.1 | ||
XCR1 | NM_005283.3 | c.988G>A | p.Ala330Thr | missense_variant | Exon 3 of 3 | NP_005274.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
XCR1 | ENST00000309285.4 | c.988G>A | p.Ala330Thr | missense_variant | Exon 2 of 2 | 1 | NM_001024644.2 | ENSP00000310405.3 | ||
XCR1 | ENST00000395946.3 | c.988G>A | p.Ala330Thr | missense_variant | Exon 3 of 3 | 1 | ENSP00000379277.3 | |||
XCR1 | ENST00000683768.1 | c.988G>A | p.Ala330Thr | missense_variant | Exon 6 of 6 | ENSP00000507745.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000368 AC: 9AN: 244690Hom.: 0 AF XY: 0.0000378 AC XY: 5AN XY: 132436
GnomAD4 exome AF: 0.0000206 AC: 30AN: 1459546Hom.: 0 Cov.: 30 AF XY: 0.0000165 AC XY: 12AN XY: 725882
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.988G>A (p.A330T) alteration is located in exon 3 (coding exon 1) of the XCR1 gene. This alteration results from a G to A substitution at nucleotide position 988, causing the alanine (A) at amino acid position 330 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