5-150407221-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001025159.3(CD74):c.229C>T(p.Arg77Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000551 in 1,613,868 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001025159.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152094Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000638 AC: 16AN: 250680Hom.: 0 AF XY: 0.0000738 AC XY: 10AN XY: 135582
GnomAD4 exome AF: 0.0000520 AC: 76AN: 1461774Hom.: 0 Cov.: 31 AF XY: 0.0000536 AC XY: 39AN XY: 727186
GnomAD4 genome AF: 0.0000855 AC: 13AN: 152094Hom.: 1 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74274
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.229C>T (p.R77W) alteration is located in exon 2 (coding exon 2) of the CD74 gene. This alteration results from a C to T substitution at nucleotide position 229, causing the arginine (R) at amino acid position 77 to be replaced by a tryptophan (W). 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