Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000501.4(ELN):c.2132G>A(p.Gly711Asp) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00425 in 1,614,152 control chromosomes in the GnomAD database, including 17 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
ELN (HGNC:3327): (elastin) This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]
ELN Gene-Disease associations (from GenCC):
cutis laxa, autosomal dominant 1
Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), PanelApp Australia, Ambry Genetics, Genomics England PanelApp, G2P
Our verdict: Benign. The variant received -20 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.011181653).
BP6
Variant 7-74068657-G-A is Benign according to our data. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74068657-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 43585.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BS1
Variant frequency is greater than expected in population amr. GnomAd4 allele frequency = 0.00316 (481/152288) while in subpopulation AMR AF = 0.00562 (86/15290). AF 95% confidence interval is 0.00466. There are 0 homozygotes in GnomAd4. There are 225 alleles in the male GnomAd4 subpopulation. Median coverage is 32. This position passed quality control check.
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Significance:Likely benign
Review Status:no assertion criteria provided
Collection Method:clinical testing
- -
Mar 09, 2021
GeneDx
Significance:Likely benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
This variant is associated with the following publications: (PMID: 16374472, 16081882, 19029017, 28146470) -
-
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Significance:Likely benign
Review Status:no assertion criteria provided
Collection Method:clinical testing
- -
Apr 01, 2025
CeGaT Center for Human Genetics Tuebingen
Significance:Benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
ELN: BS1, BS2 -
not specifiedBenign:4
-
Genome Diagnostics Laboratory, University Medical Center Utrecht
Significance:Benign
Review Status:no assertion criteria provided
Collection Method:clinical testing
- -
-
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Significance:Benign
Review Status:no assertion criteria provided
Collection Method:clinical testing
- -
Jul 19, 2012
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Significance:Likely benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
Gly711Asp in exon 33 of ELN: This variant is not expected to have clinical signi ficance because it has been identified in 0.4% (34/8600) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS) and in 2.5% (5/196) of Tuscan (Italian) chromosomes f rom a broad population by the 1000 Genomes project (dbSNP rs41511151). Gly711A sp in exon 33 of ELN (rs41511151; allele frequency = 0.4%, 34/8600) ** -
Apr 09, 2025
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute