17-42582088-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_178126.4(RETREG3):c.1126G>A(p.Glu376Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000304 in 1,613,950 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 (★).
Frequency
Consequence
NM_178126.4 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 |
---|---|---|---|---|---|---|---|---|
RETREG3 | NM_178126.4 | c.1126G>A | p.Glu376Lys | missense_variant | Exon 9 of 9 | ENST00000309428.10 | NP_835227.1 | |
RETREG3 | XM_047435503.1 | c.835G>A | p.Glu279Lys | missense_variant | Exon 10 of 10 | XP_047291459.1 | ||
RETREG3 | NR_026697.2 | n.1198G>A | non_coding_transcript_exon_variant | Exon 8 of 8 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152082Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 250956Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135752
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1461868Hom.: 0 Cov.: 31 AF XY: 0.0000385 AC XY: 28AN XY: 727238
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152082Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74300
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1126G>A (p.E376K) alteration is located in exon 9 (coding exon 9) of the FAM134C gene. This alteration results from a G to A substitution at nucleotide position 1126, causing the glutamic acid (E) at amino acid position 376 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