7-27184626-C-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6BP7BS2
The NM_005523.6(HOXA11):c.519G>T(p.Thr173Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000356 in 1,545,720 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_005523.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 8AN: 154738Hom.: 0 AF XY: 0.0000923 AC XY: 8AN XY: 86664
GnomAD4 exome AF: 0.0000337 AC: 47AN: 1393470Hom.: 1 Cov.: 33 AF XY: 0.0000464 AC XY: 32AN XY: 689830
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152250Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74436
ClinVar
Submissions by phenotype
HOXA11-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at