chrX-17478077-G-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001291867.2(NHS):c.565+101755G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0614 in 111,478 control chromosomes in the GnomAD database, including 549 homozygotes. There are 1,802 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001291867.2 intron
Scores
Clinical Significance
Conservation
Publications
- Nance-Horan syndromeInheritance: XL Classification: DEFINITIVE, STRONG, MODERATE, SUPPORTIVE Submitted by: ClinGen, Orphanet, G2P, Labcorp Genetics (formerly Invitae), Ambry Genetics
- early-onset nuclear cataractInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0613 AC: 6834AN: 111427Hom.: 549 Cov.: 23 show subpopulations
GnomAD4 genome AF: 0.0614 AC: 6845AN: 111478Hom.: 549 Cov.: 23 AF XY: 0.0535 AC XY: 1802AN XY: 33694 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at