chr7-74060425-C-T

Variant names:

• chr7-74060425-C-T
• rs563533415
• NM_000501.4:c.1671C>T

Variant summary

Our verdict is Benign. The variant received -21 ACMG points: 0P and 21B. BP4_Strong BP6_Very_Strong BP7 BS1 BS2

The NM_000501.4(ELN):​c.1671C>T​(p.Val557Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000347 in 1,613,960 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).

• Frequency:
  • Genomes: 𝑓 0.000039 (0 hom., cov: 32)
  • Exomes 𝑓: 0.000034 (0 hom.)
• Consequence: ELN NM_000501.4 synonymous
• Clinical Significance: Likely benign criteria provided, multiple submitters, no conflicts B:3
• Conservation: PhyloP100: -4.30
• Publications: 1 publications found

Genes affected

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-AS1 (HGNC:40212): (ELN antisense RNA 1)

ACMG classification

Our verdict: Benign. The variant received -21 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.58).
• BP6: Variant 7-74060425-C-T is Benign according to our data. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-74060425-C-T is described in CliVar as Likely_benign. Clinvar id is 383752.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BP7: Synonymous conserved (PhyloP=-4.3 with no splicing effect.
• BS1: Variant frequency is greater than expected in population amr. GnomAdExome4 allele frequency = 0.0000342 (50/1461832) while in subpopulation AMR AF = 0.000626 (28/44722). AF 95% confidence interval is 0.000444. There are 0 homozygotes in GnomAdExome4. There are 18 alleles in the male GnomAdExome4 subpopulation. Median coverage is 31. This position passed quality control check.
• BS2: High AC in GnomAd4 at 6 AD gene.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ELN	NM_000501.4	c.1671C>T	p.Val557Val	synonymous_variant	Exon 25 of 33	ENST00000252034.12	NP_000492.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ELN	ENST00000252034.12	c.1671C>T	p.Val557Val	synonymous_variant	Exon 25 of 33	1	NM_000501.4	ENSP00000252034.7

Frequencies

GnomAD3 genomes AF: 0.0000394 AC: 6 AN: 152128 Hom.: 0 Cov.: 32

Gnomad AFR AF: 0.0000241

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000262

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000147

Gnomad OTH AF: 0.00

GnomAD2 exomes AF: 0.0000756 AC: 19 AN: 251450 AF XY: 0.0000589

Gnomad AFR exome AF: 0.00

Gnomad AMR exome AF: 0.000491

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.00

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.0000176

Gnomad OTH exome AF: 0.00

GnomAD4 exome AF: 0.0000342 AC: 50 AN: 1461832 Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18 AN XY: 727216

African (AFR) AF: 0.0000299 AC: 1 AN: 33474

American (AMR) AF: 0.000626 AC: 28 AN: 44722

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 26136

East Asian (EAS) AF: 0.00 AC: 0 AN: 39700

South Asian (SAS) AF: 0.00 AC: 0 AN: 86252

European-Finnish (FIN) AF: 0.0000187 AC: 1 AN: 53418

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5758

European-Non Finnish (NFE) AF: 0.0000180 AC: 20 AN: 1111978

Other (OTH) AF: 0.00 AC: 0 AN: 60394

GnomAD4 genome AF: 0.0000394 AC: 6 AN: 152128 Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3 AN XY: 74302

African (AFR) AF: 0.0000241 AC: 1 AN: 41422

American (AMR) AF: 0.000262 AC: 4 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3470

East Asian (EAS) AF: 0.00 AC: 0 AN: 5182

South Asian (SAS) AF: 0.00 AC: 0 AN: 4830

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10594

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 316

European-Non Finnish (NFE) AF: 0.0000147 AC: 1 AN: 68036

Other (OTH) AF: 0.00 AC: 0 AN: 2088

Alfa AF: 0.00 Hom.: 0

Bravo AF: 0.0000378

EpiCase AF: 0.00

EpiControl AF: 0.0000593

ClinVar

Significance: Likely benign

Submissions summary: Benign:3

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not specified Benign:1

Feb 02, 2016

GeneDx

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -

not provided Benign:1

-

Breakthrough Genomics, Breakthrough Genomics

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: not provided

- -

Supravalvar aortic stenosis Benign:1

Apr 13, 2024

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.58
CADD	Benign	0.13
DANN	Benign	0.62
PhyloP100		-4.3

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs563533415; hg19: chr7-73474755;