rs11271404
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1
The NM_000965.5(RARB):c.306+6163_306+6201delACAATCATAGCAAGCCAACGCCACTTATCCAGTGAACCA variant causes a intron change involving the alteration of a non-conserved nucleotide. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000965.5 intron
Scores
Clinical Significance
Conservation
Publications
- microphthalmia, syndromic 12Inheritance: AR, AD Classification: DEFINITIVE, STRONG, MODERATE Submitted by: G2P, Ambry Genetics, Labcorp Genetics (formerly Invitae), PanelApp Australia, ClinGen, Baylor College of Medicine Research Center
- Matthew-Wood syndromeInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.465 AC: 70210AN: 151138Hom.: 16460 Cov.: 0 show subpopulations
GnomAD4 genome AF: 0.465 AC: 70269AN: 151250Hom.: 16476 Cov.: 0 AF XY: 0.467 AC XY: 34478AN XY: 73862 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at