11-94456346-A-G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBS2_Supporting
The NM_005591.4(MRE11):c.1501-8T>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000687 in 1,455,260 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Likely benign (★).
Frequency
Consequence
NM_005591.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRE11 | NM_005591.4 | c.1501-8T>C | splice_region_variant, intron_variant | Intron 13 of 19 | ENST00000323929.8 | NP_005582.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRE11 | ENST00000323929.8 | c.1501-8T>C | splice_region_variant, intron_variant | Intron 13 of 19 | 1 | NM_005591.4 | ENSP00000325863.4 | |||
MRE11 | ENST00000323977.7 | c.1501-8T>C | splice_region_variant, intron_variant | Intron 13 of 18 | 1 | ENSP00000326094.3 | ||||
MRE11 | ENST00000407439.7 | c.1510-8T>C | splice_region_variant, intron_variant | Intron 13 of 19 | 2 | ENSP00000385614.3 | ||||
MRE11 | ENST00000393241.8 | c.1501-8T>C | splice_region_variant, intron_variant | Intron 13 of 19 | 5 | ENSP00000376933.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250048Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135190
GnomAD4 exome AF: 0.00000687 AC: 10AN: 1455260Hom.: 0 Cov.: 29 AF XY: 0.00000552 AC XY: 4AN XY: 724468
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Ataxia-telangiectasia-like disorder Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at