NM_001372078.1:c.8926C>T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001372078.1(REV3L):c.8926C>T(p.Pro2976Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000171 in 1,461,808 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_001372078.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
REV3L | NM_001372078.1 | c.8926C>T | p.Pro2976Ser | missense_variant | Exon 30 of 32 | ENST00000368802.8 | NP_001359007.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251324Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135828
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461808Hom.: 0 Cov.: 30 AF XY: 0.0000179 AC XY: 13AN XY: 727210
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.8926C>T (p.P2976S) alteration is located in exon 30 (coding exon 30) of the REV3L gene. This alteration results from a C to T substitution at nucleotide position 8926, causing the proline (P) at amino acid position 2976 to be replaced by a serine (S). 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