6-7182047-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001003699.4(RREB1):c.136C>T(p.Pro46Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000261 in 1,614,006 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001003699.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RREB1 | NM_001003699.4 | c.136C>T | p.Pro46Ser | missense_variant | 4/13 | ENST00000379938.7 | NP_001003699.1 | |
RREB1 | NM_001003698.4 | c.136C>T | p.Pro46Ser | missense_variant | 4/12 | NP_001003698.1 | ||
RREB1 | NM_001168344.2 | c.136C>T | p.Pro46Ser | missense_variant | 4/12 | NP_001161816.1 | ||
RREB1 | NM_001003700.2 | c.136C>T | p.Pro46Ser | missense_variant | 4/12 | NP_001003700.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00124 AC: 189AN: 152034Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000366 AC: 92AN: 251208Hom.: 0 AF XY: 0.000287 AC XY: 39AN XY: 135784
GnomAD4 exome AF: 0.000156 AC: 228AN: 1461854Hom.: 0 Cov.: 31 AF XY: 0.000116 AC XY: 84AN XY: 727226
GnomAD4 genome AF: 0.00128 AC: 194AN: 152152Hom.: 2 Cov.: 32 AF XY: 0.00118 AC XY: 88AN XY: 74392
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Apr 10, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at