rs771424292
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BS1BS2
The NM_021954.4(GJA3):c.723C>T(p.Asp241Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000107 in 1,591,702 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_021954.4 synonymous
Scores
Clinical Significance
Conservation
Publications
- cataract 14 multiple typesInheritance: AD Classification: DEFINITIVE, STRONG Submitted by: G2P, Labcorp Genetics (formerly Invitae)
- early-onset nuclear cataractInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- early-onset posterior polar cataractInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- pulverulent cataractInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152148Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000336 AC: 7AN: 208428 AF XY: 0.0000437 show subpopulations
GnomAD4 exome AF: 0.00000903 AC: 13AN: 1439554Hom.: 0 Cov.: 35 AF XY: 0.0000126 AC XY: 9AN XY: 714452 show subpopulations
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152148Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74334 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at