11-4135094-A-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001033.5(RRM1):c.2014A>G(p.Ile672Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000329 in 1,457,162 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_001033.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RRM1 | NM_001033.5 | c.2014A>G | p.Ile672Val | missense_variant | Exon 18 of 19 | ENST00000300738.10 | NP_001024.1 | |
RRM1 | NM_001318064.1 | c.1723A>G | p.Ile575Val | missense_variant | Exon 17 of 18 | NP_001304993.1 | ||
RRM1 | NM_001330193.1 | c.1348A>G | p.Ile450Val | missense_variant | Exon 12 of 13 | NP_001317122.1 | ||
RRM1 | NM_001318065.1 | c.1000A>G | p.Ile334Val | missense_variant | Exon 12 of 13 | NP_001304994.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249028Hom.: 0 AF XY: 0.0000223 AC XY: 3AN XY: 134574
GnomAD4 exome AF: 0.0000329 AC: 48AN: 1457162Hom.: 0 Cov.: 30 AF XY: 0.0000331 AC XY: 24AN XY: 724368
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2014A>G (p.I672V) alteration is located in exon 18 (coding exon 18) of the RRM1 gene. This alteration results from a A to G substitution at nucleotide position 2014, causing the isoleucine (I) at amino acid position 672 to be replaced by a valine (V). 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