rs1554026745
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001034850.3(RETREG1):c.210G>T(p.Trp70Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. W70R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001034850.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RETREG1 | NM_001034850.3 | c.210G>T | p.Trp70Cys | missense_variant | 1/9 | ENST00000306320.10 | |
RETREG1-AS1 | NR_109946.1 | n.561+276C>A | intron_variant, non_coding_transcript_variant | ||||
RETREG1 | XM_011514053.4 | c.210G>T | p.Trp70Cys | missense_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RETREG1 | ENST00000306320.10 | c.210G>T | p.Trp70Cys | missense_variant | 1/9 | 1 | NM_001034850.3 | ||
RETREG1-AS1 | ENST00000653650.1 | n.329+276C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1406564Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 696908
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2021 | The c.210G>T (p.W70C) alteration is located in exon 1 (coding exon 1) of the FAM134B gene. This alteration results from a G to T substitution at nucleotide position 210, causing the tryptophan (W) at amino acid position 70 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Sep 01, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at