16-81035941-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_015251.3(ATMIN):c.71C>T(p.Ala24Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000124 in 1,004,026 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_015251.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATMIN | NM_015251.3 | c.71C>T | p.Ala24Val | missense_variant | 1/4 | ENST00000299575.5 | |
CENPN-AS1 | XR_007065133.1 | n.87-1015G>A | intron_variant, non_coding_transcript_variant | ||||
CENPN-AS1 | XR_007065134.1 | n.3575+796G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATMIN | ENST00000299575.5 | c.71C>T | p.Ala24Val | missense_variant | 1/4 | 1 | NM_015251.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000144 AC: 21AN: 146306Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000121 AC: 104AN: 857612Hom.: 3 Cov.: 30 AF XY: 0.000136 AC XY: 54AN XY: 398436
GnomAD4 genome ? AF: 0.000143 AC: 21AN: 146414Hom.: 0 Cov.: 32 AF XY: 0.000238 AC XY: 17AN XY: 71284
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 05, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at