rs374832216

Variant names:

• chr7-843459-G-A
• rs374832216
• NM_001130965.3:c.597G>A

Your query was ambiguous. Multiple possible variants found:

• chr7-843459-G-A
• chr7-843459-G-C
• chr7-843459-G-T

Variant summary

Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2 BP4_Moderate BP6_Moderate BP7

The NM_001130965.3(SUN1):​c.597G>A​(p.Thr199Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000582 in 1,613,986 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 0.000053 (0 hom., cov: 33)
  • Exomes 𝑓: 0.000059 (0 hom.)
• Consequence: SUN1 NM_001130965.3 synonymous
• Clinical Significance: Likely benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -4.33
• Publications: 1 publications found

Genes affected

SUN1 (HGNC:18587): (Sad1 and UNC84 domain containing 1) This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2019]

ACMG classification

Our verdict: Likely_benign. The variant received -3 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (REVEL=0.058).
• BP6: Variant 7-843459-G-A is Benign according to our data. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr7-843459-G-A is described in CliVar as Likely_benign. Clinvar id is 581832.Status of the report is criteria_provided_single_submitter, 1 stars.
• BP7: Synonymous conserved (PhyloP=-4.32 with no splicing effect.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SUN1	NM_001130965.3	c.597G>A	p.Thr199Thr	synonymous_variant	Exon 5 of 19	ENST00000401592.6	NP_001124437.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SUN1	ENST00000401592.6	c.597G>A	p.Thr199Thr	synonymous_variant	Exon 5 of 19	1	NM_001130965.3	ENSP00000384015.1

Frequencies

GnomAD3 genomes AF: 0.0000526 AC: 8 AN: 152220 Hom.: 0 Cov.: 33

Gnomad AFR AF: 0.0000483

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0000654

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000207

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000588

Gnomad OTH AF: 0.00

GnomAD2 exomes AF: 0.0000442 AC: 11 AN: 248964 AF XY: 0.0000517

Gnomad AFR exome AF: 0.00

Gnomad AMR exome AF: 0.0000290

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.000111

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.0000709

Gnomad OTH exome AF: 0.00

GnomAD4 exome AF: 0.0000588 AC: 86 AN: 1461766 Hom.: 0 Cov.: 34 AF XY: 0.0000509 AC XY: 37 AN XY: 727190

African (AFR) AF: 0.00 AC: 0 AN: 33480

American (AMR) AF: 0.0000224 AC: 1 AN: 44722

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 26134

East Asian (EAS) AF: 0.00 AC: 0 AN: 39698

South Asian (SAS) AF: 0.00 AC: 0 AN: 86254

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 53368

Middle Eastern (MID) AF: 0.000173 AC: 1 AN: 5768

European-Non Finnish (NFE) AF: 0.0000746 AC: 83 AN: 1111960

Other (OTH) AF: 0.0000166 AC: 1 AN: 60382

GnomAD4 genome AF: 0.0000526 AC: 8 AN: 152220 Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5 AN XY: 74368

African (AFR) AF: 0.0000483 AC: 2 AN: 41446

American (AMR) AF: 0.0000654 AC: 1 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3472

East Asian (EAS) AF: 0.00 AC: 0 AN: 5194

South Asian (SAS) AF: 0.000207 AC: 1 AN: 4838

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10620

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

European-Non Finnish (NFE) AF: 0.0000588 AC: 4 AN: 68048

Other (OTH) AF: 0.00 AC: 0 AN: 2092

Alfa AF: 0.0000969 Hom.: 0

Bravo AF: 0.0000529

EpiCase AF: 0.00

EpiControl AF: 0.000119

ClinVar

Significance: Likely benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

Emery-Dreifuss muscular dystrophy Benign:1

Jan 31, 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	-0.77
CADD	Benign	0.039
DANN	Benign	0.76
PhyloP100		-4.3
PromoterAI		0.011	Neutral
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1
Mutation Taster		=100/0	polymorphism

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: rs374832216; hg19: chr7-883096;