6-34242693-ACC-ACCC
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_145899.3(HMGA1):c.136-14dupC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0376 in 1,537,206 control chromosomes in the GnomAD database, including 2,965 homozygotes. Variant has been reported in ClinVar as Benign (★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_145899.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0539 AC: 8188AN: 151818Hom.: 473 Cov.: 31
GnomAD3 exomes AF: 0.0774 AC: 13344AN: 172502Hom.: 1475 AF XY: 0.0678 AC XY: 6205AN XY: 91530
GnomAD4 exome AF: 0.0358 AC: 49586AN: 1385270Hom.: 2482 Cov.: 28 AF XY: 0.0352 AC XY: 24167AN XY: 685858
GnomAD4 genome AF: 0.0540 AC: 8211AN: 151936Hom.: 483 Cov.: 31 AF XY: 0.0552 AC XY: 4097AN XY: 74260
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is associated with the following publications: (PMID: 24148075, 26296198, 23512162, 22411136, 22210315, 21364139) -
Diabetes mellitus type 2, susceptibility to Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at