NM_007078.3:c.2016C>T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_007078.3(LDB3):c.2016C>T(p.Cys672Cys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00448 in 1,613,954 control chromosomes in the GnomAD database, including 27 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_007078.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00274 AC: 417AN: 152150Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00248 AC: 623AN: 251462Hom.: 2 AF XY: 0.00224 AC XY: 305AN XY: 135906
GnomAD4 exome AF: 0.00466 AC: 6818AN: 1461686Hom.: 26 Cov.: 31 AF XY: 0.00451 AC XY: 3279AN XY: 727142
GnomAD4 genome AF: 0.00274 AC: 417AN: 152268Hom.: 1 Cov.: 32 AF XY: 0.00266 AC XY: 198AN XY: 74446
ClinVar
Submissions by phenotype
not provided Benign:7
- -
- -
LDB3: BP4, BP7, BS2 -
- -
- -
- -
- -
not specified Benign:5
Cys672Cys in exon 15 of the LDB3 gene: This variant does not not alter an amino acid residue and is not located near a splice junction. Although some base chang es that do not result in amino acid changes can be associated with disease, this variant occurs in ~1% of the general population; rs45578640) and is therefore m ost likely benign. -
- -
- -
- -
- -
Myofibrillar myopathy 4 Benign:1
- -
LDB3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Cardiovascular phenotype Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at