chrX-101348375-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001145951.2(TIMM8A):c.*12A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.017 in 1,172,658 control chromosomes in the GnomAD database, including 160 homozygotes. There are 6,494 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001145951.2 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0123 AC: 1348AN: 109950Hom.: 11 Cov.: 21 AF XY: 0.0124 AC XY: 400AN XY: 32276
GnomAD3 exomes AF: 0.0136 AC: 1669AN: 122550Hom.: 15 AF XY: 0.0134 AC XY: 550AN XY: 41086
GnomAD4 exome AF: 0.0175 AC: 18633AN: 1062652Hom.: 149 Cov.: 31 AF XY: 0.0176 AC XY: 6093AN XY: 347068
GnomAD4 genome AF: 0.0123 AC: 1348AN: 110006Hom.: 11 Cov.: 21 AF XY: 0.0124 AC XY: 401AN XY: 32342
ClinVar
Submissions by phenotype
not specified Benign:2
*12A>G in Exon 02 of TIMM8A: This variant is not expected to have clinical signi ficance because it has been identified in 1.6% (30/1899) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs41309506). -
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at