Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_030621.4(DICER1):c.884C>G (p.Ser295Cys)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA7331562

242151 (ClinVar)

Gene: DICER1

Condition: dicer1 syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 01250ee6-c3f3-4f76-a436-492940d394a4

Approved on: 2022-05-18

Published on: 2022-07-08

HGVS expressions

NM_030621.4:c.884C>G

NM_030621.4(DICER1):c.884C>G (p.Ser295Cys)

NC_000014.9:g.95126599G>C

CM000676.2:g.95126599G>C

NC_000014.8:g.95592936G>C

CM000676.1:g.95592936G>C

NC_000014.7:g.94662689G>C

NG_016311.1:g.35824C>G

ENST00000343455.8:c.884C>G

ENST00000393063.6:c.884C>G

ENST00000526495.6:c.884C>G

ENST00000532939.3:c.884C>G

ENST00000556045.6:c.884C>G

ENST00000674628.1:c.884C>G

ENST00000675995.1:c.884C>G

ENST00000343455.7:c.884C>G

ENST00000393063.5:c.884C>G

ENST00000526495.5:c.884C>G

ENST00000527414.5:c.884C>G

ENST00000541352.5:c.884C>G

NM_001195573.1:c.884C>G

NM_001271282.2:c.884C>G

NM_001291628.1:c.884C>G

NM_177438.2:c.884C>G

NM_001271282.3:c.884C>G

NM_001291628.2:c.884C>G

NM_177438.3:c.884C>G

NM_001395677.1:c.884C>G

NM_001395678.1:c.884C>G

NM_001395679.1:c.884C>G

NM_001395680.1:c.884C>G

NM_001395682.1:c.884C>G

NM_001395683.1:c.884C>G

NM_001395684.1:c.884C>G

NM_001395685.1:c.884C>G

NM_001395686.1:c.602C>G

NM_001395687.1:c.479C>G

NM_001395688.1:c.479C>G

NM_001395689.1:c.479C>G

NM_001395690.1:c.479C>G

NM_001395691.1:c.317C>G

NM_001395692.1:c.884C>G

NM_001395693.1:c.884C>G

NM_001395694.1:c.884C>G

NM_001395695.1:c.884C>G

NM_001395696.1:c.479C>G

NM_001395697.1:c.-685C>G

NM_001395698.1:c.479C>G

NM_001395699.1:c.884C>G

NM_001395700.1:c.884C>G

NR_172715.1:n.1098C>G

NR_172716.1:n.1229C>G

NR_172717.1:n.1396C>G

NR_172718.1:n.1396C>G

NR_172719.1:n.1229C>G

NR_172720.1:n.1229C>G

NM_177438.3(DICER1):c.884C>G (p.Ser295Cys)

Benign

BS2 BP4 BA1

Evidence Links 0

Expert Panel

DICER1 and miRNA-Processing Gene VCEP

Criteria Specification Information

Criteria Specification: ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

DICER1 and miRNA-Processing Gene VCEP

The NM_177438.2:c.884C>G variant in DICER1 is a missense variant predicted to cause substitution of serine by cysteine at amino acid 295 (p.Ser295Cys). The highest population minor allele frequency in gnomAD v2.1.1 (non-cancer) is 0.0072 (219/30496 alleles; FAF=0.0064) in the South Asian population, which is higher than the ClinGen DICER1 VCEP threshold (>0.003) for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as BENIGN for DICER1 syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen DICER1 VCEP: BA1. (Bayesian Points: NA; VCEP specifications version 1; 02/11/2022)

BS2

This variant has been observed in a homozygous state in 2 healthy individuals and has been seen in 10 or more unrelated females without tumors through age 50 in at least one testing laboratory (BS2; SCV000291728.7, SCV000661873.3). Invitae - 3 homozygous individuals (2 healthy; 1 no clinical info) and 21 females tumor free through age 50 Ambry - 30 females tumor free through age 50 GeneDx - 2 homozygous adults without clinical info

BP4

REVEL = 0.159, MES and SpliceAI: no splicing effects predicted

BA1

South Asian sub-population MAF = 219/30496 alleles, 2 homozygotes = 0.007181 (gnomAD v2.1.1 (non-cancer))

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.