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NC_000014.9:g.95108007T>C AND See cases

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002221968.2

Allele description

NC_000014.9:g.95108007T>C

Gene:
DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NC_000014.9:g.95108007T>C
Other names:
NM_177438.3(DICER1):c.2523A>G; p.Gln841=
HGVS:
  • NC_000014.9:g.95108007T>C
  • NG_016311.1:g.54416A>G
  • NM_001195573.1:c.2523A>G
  • NM_001271282.3:c.2523A>G
  • NM_001291628.2:c.2523A>G
  • NM_030621.4:c.2523A>G
  • NM_177438.3:c.2523A>GMANE SELECT
  • NP_001182502.1:p.Gln841=
  • NP_001258211.1:p.Gln841=
  • NP_001278557.1:p.Gln841=
  • NP_085124.2:p.Gln841=
  • NP_803187.1:p.Gln841=
  • LRG_492:g.54416A>G
  • NC_000014.8:g.95574344T>C
  • NC_000014.8:g.95574344T>C
Links:
dbSNP: rs1891604387

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002498815Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significanceunknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002498815.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)

Description

This variant does not result in a change to the amino acid at position 841, but some in silico tools predict that it could alter mRNA splicing by creating a new splice acceptor site (SpliceAI, Alternative Splice Site Predictor). However, these predictions have not been confirmed with functional studies. To our knowledge, the variant has not previously been reported in the literature, is absent from population databases (gnomAD and ExAC frequencies of 0), and is not listed in ClinVar. A missense variant at this position has been reported in ClinVar as a variant of uncertain significance (Variation ID: 834289).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2025