NM_207644.3:c.832G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_207644.3(LRRC75B):c.832G>A(p.Glu278Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000366 in 1,610,726 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E278Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_207644.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LRRC75B | NM_207644.3 | c.832G>A | p.Glu278Lys | missense_variant | Exon 4 of 4 | ENST00000318753.13 | NP_997527.2 | |
GGT1 | NM_013430.3 | c.-429+2194C>T | intron_variant | Intron 1 of 15 | NP_038347.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000246 AC: 6AN: 244106Hom.: 0 AF XY: 0.0000225 AC XY: 3AN XY: 133072
GnomAD4 exome AF: 0.0000336 AC: 49AN: 1458524Hom.: 0 Cov.: 31 AF XY: 0.0000413 AC XY: 30AN XY: 725750
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.832G>A (p.E278K) alteration is located in exon 4 (coding exon 4) of the LRRC75B gene. This alteration results from a G to A substitution at nucleotide position 832, causing the glutamic acid (E) at amino acid position 278 to be replaced by a lysine (K). 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