rs13097628
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001106.4(ACVR2B):c.811-13T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.527 in 1,612,976 control chromosomes in the GnomAD database, including 232,383 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001106.4 intron
Scores
Clinical Significance
Conservation
Publications
- heterotaxy, visceral, 4, autosomalInheritance: AD Classification: STRONG, LIMITED Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae), G2P
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ACMG classification
Our verdict: Benign. The variant received -20 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001106.4. You can select a different transcript below to see updated ACMG assignments.
Frequencies
GnomAD3 genomes AF: 0.430 AC: 65343AN: 151940Hom.: 16310 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.478 AC: 119884AN: 250868 AF XY: 0.492 show subpopulations
GnomAD4 exome AF: 0.537 AC: 783894AN: 1460916Hom.: 216073 Cov.: 45 AF XY: 0.538 AC XY: 390834AN XY: 726762 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.430 AC: 65352AN: 152060Hom.: 16310 Cov.: 31 AF XY: 0.427 AC XY: 31711AN XY: 74304 show subpopulations
Age Distribution
ClinVar
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at