11-108317539-ATTTT-ATT
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP6_Moderate
The NM_000051.4(ATM):c.6347+30_6347+31delTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00115 in 1,298,164 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★). The gene ATM is included in the ClinGen Criteria Specification Registry.
Frequency
Consequence
NM_000051.4 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_000051.4. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ATM | MANE Select | c.6347+19_6347+20delTT | intron | N/A | ENSP00000501606.1 | Q13315 | |||
| ATM | TSL:1 | c.6347+19_6347+20delTT | intron | N/A | ENSP00000388058.2 | Q13315 | |||
| ATM | TSL:1 | n.*1411+19_*1411+20delTT | intron | N/A | ENSP00000435747.2 | E9PIN0 |
Frequencies
GnomAD3 genomes AF: 0.00000799 AC: 1AN: 125140Hom.: 0 Cov.: 23 show subpopulations
GnomAD2 exomes AF: 0.00291 AC: 296AN: 101888 AF XY: 0.00268 show subpopulations
GnomAD4 exome AF: 0.00127 AC: 1494AN: 1173024Hom.: 0 AF XY: 0.00128 AC XY: 748AN XY: 585382 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
Age Distribution
GnomAD4 genome AF: 0.00000799 AC: 1AN: 125140Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 59940 show subpopulations ⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
Age Distribution
ClinVar
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at