rs139876191
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145899.3(HMGA1):c.136-15_136-14delCC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000026 in 1,537,396 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_145899.3 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151834Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000144 AC: 2AN: 1385562Hom.: 0 AF XY: 0.00000292 AC XY: 2AN XY: 685980
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151834Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74140
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at