chr2-85667185-G-T

Variant names:

• chr2-85667185-G-T
• rs3024798
• NM_000542.5:c.196-8C>A

Variant summary

Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_Strong BP6_Very_Strong BA1

The NM_000542.5(SFTPB):​c.196-8C>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.357 in 1,606,802 control chromosomes in the GnomAD database, including 106,754 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 Benign (★★).

• Frequency:
  • Genomes: 𝑓 0.30 (8087 hom., cov: 32)
  • Exomes 𝑓: 0.36 (98667 hom.)
• Consequence: SFTPB NM_000542.5 splice_region, intron
• Scores: Splicing: ADA: 0.009874
• Clinical Significance: Benign criteria provided, multiple submitters, no conflicts B:8
• Conservation: PhyloP100: 1.39
• Publications: 19 publications found

Genes affected

SFTPB (HGNC:10801): (surfactant protein B) This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]

SFTPB Gene-Disease associations (from GenCC):

• surfactant metabolism dysfunction, pulmonary, 1

  Inheritance: AR Classification: STRONG, SUPPORTIVE Submitted by: Genomics England PanelApp, Orphanet, Labcorp Genetics (formerly Invitae)

ACMG classification

Our verdict: Benign. The variant received -20 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.55).
• BP6: Variant 2-85667185-G-T is Benign according to our data. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr2-85667185-G-T is described in CliVar as Benign. Clinvar id is 165206.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.395 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SFTPB	NM_000542.5	c.196-8C>A		splice_region_variant, intron_variant	Intron 2 of 10	ENST00000519937.7	NP_000533.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SFTPB	ENST00000519937.7	c.196-8C>A		splice_region_variant, intron_variant	Intron 2 of 10	1	NM_000542.5	ENSP00000428719.2

Frequencies

GnomAD3 genomes AF: 0.301 AC: 45785 AN: 151932 Hom.: 8087 Cov.: 32

Gnomad AFR AF: 0.105

Gnomad AMI AF: 0.455

Gnomad AMR AF: 0.372

Gnomad ASJ AF: 0.480

Gnomad EAS AF: 0.375

Gnomad SAS AF: 0.410

Gnomad FIN AF: 0.327

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.375

Gnomad OTH AF: 0.341

GnomAD2 exomes AF: 0.361 AC: 90187 AN: 249836 AF XY: 0.367

Gnomad AFR exome AF: 0.0919

Gnomad AMR exome AF: 0.400

Gnomad ASJ exome AF: 0.479

Gnomad EAS exome AF: 0.379

Gnomad FIN exome AF: 0.322

Gnomad NFE exome AF: 0.370

Gnomad OTH exome AF: 0.376

GnomAD4 exome AF: 0.363 AC: 528395 AN: 1454752 Hom.: 98667 Cov.: 33 AF XY: 0.366 AC XY: 265263 AN XY: 723956

African (AFR) AF: 0.0914 AC: 3055 AN: 33436

American (AMR) AF: 0.405 AC: 18029 AN: 44544

Ashkenazi Jewish (ASJ) AF: 0.482 AC: 12559 AN: 26076

East Asian (EAS) AF: 0.379 AC: 15012 AN: 39616

South Asian (SAS) AF: 0.402 AC: 34586 AN: 86010

European-Finnish (FIN) AF: 0.317 AC: 16930 AN: 53342

Middle Eastern (MID) AF: 0.415 AC: 2380 AN: 5738

European-Non Finnish (NFE) AF: 0.366 AC: 404426 AN: 1105822

Other (OTH) AF: 0.356 AC: 21418 AN: 60168

GnomAD4 genome AF: 0.301 AC: 45789 AN: 152050 Hom.: 8087 Cov.: 32 AF XY: 0.301 AC XY: 22406 AN XY: 74320

African (AFR) AF: 0.105 AC: 4345 AN: 41502

American (AMR) AF: 0.372 AC: 5682 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.480 AC: 1666 AN: 3472

East Asian (EAS) AF: 0.376 AC: 1939 AN: 5158

South Asian (SAS) AF: 0.410 AC: 1976 AN: 4814

European-Finnish (FIN) AF: 0.327 AC: 3462 AN: 10592

Middle Eastern (MID) AF: 0.463 AC: 136 AN: 294

European-Non Finnish (NFE) AF: 0.375 AC: 25449 AN: 67926

Other (OTH) AF: 0.342 AC: 720 AN: 2104

Alfa AF: 0.343 Hom.: 8473

Bravo AF: 0.296

Asia WGS AF: 0.370 AC: 1285 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:8

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not provided Benign:3

Nov 12, 2018

GeneDx

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Feb 03, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

-

Breakthrough Genomics, Breakthrough Genomics

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: not provided

- -

not specified Benign:2

Feb 21, 2013

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

232-8C>A in intron 3 of SFTPB: This variant is not expected to have clinical sig nificance because it has been identified in 37.5% (3227/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs3024798). -

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PreventionGenetics, part of Exact Sciences

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Surfactant metabolism dysfunction, pulmonary, 1 Benign:2

Jul 15, 2021

Genome-Nilou Lab

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Jan 13, 2018

Illumina Laboratory Services, Illumina

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -

Hereditary pulmonary alveolar proteinosis Benign:1

Oct 26, 2015

Ambry Genetics

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.55
CADD	Benign	10
DANN	Benign	0.82
PhyloP100		1.4
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
dbscSNV1_ADA	Benign	0.0099
dbscSNV1_RF	Benign	0.092
SpliceAI score (max)		0.050		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: rs3024798; hg19: chr2-85894308; COSMIC: COSV60893037; COSMIC: COSV60893037;