3-138372859-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001085049.3(MRAS):c.-18-7G>T variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.821 in 1,498,120 control chromosomes in the GnomAD database, including 506,588 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001085049.3 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRAS | NM_001085049.3 | c.-18-7G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000423968.7 | NP_001078518.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRAS | ENST00000423968.7 | c.-18-7G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001085049.3 | ENSP00000389682 | P1 |
Frequencies
GnomAD3 genomes AF: 0.846 AC: 128693AN: 152062Hom.: 54679 Cov.: 33
GnomAD3 exomes AF: 0.824 AC: 135896AN: 164858Hom.: 56372 AF XY: 0.816 AC XY: 74824AN XY: 91700
GnomAD4 exome AF: 0.818 AC: 1101480AN: 1345940Hom.: 451846 Cov.: 32 AF XY: 0.817 AC XY: 543841AN XY: 665910
GnomAD4 genome AF: 0.846 AC: 128815AN: 152180Hom.: 54742 Cov.: 33 AF XY: 0.846 AC XY: 62969AN XY: 74388
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 04, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at