U.S. flag

An official website of the United States government

NM_177438.3(DICER1):c.4313A>G (p.Tyr1438Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 15, 2024
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:
RCV002327480.3

Allele description [Variation Report for NM_177438.3(DICER1):c.4313A>G (p.Tyr1438Cys)]

NM_177438.3(DICER1):c.4313A>G (p.Tyr1438Cys)

Gene:
DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_177438.3(DICER1):c.4313A>G (p.Tyr1438Cys)
Other names:
NM_177438.3(DICER1):c.4313A>G; p.Tyr1438Cys
HGVS:
  • NC_000014.9:g.95096607T>C
  • NG_016311.1:g.65816A>G
  • NM_001195573.1:c.4313A>G
  • NM_001271282.3:c.4313A>G
  • NM_001291628.2:c.4313A>G
  • NM_030621.4:c.4313A>G
  • NM_177438.3:c.4313A>GMANE SELECT
  • NP_001182502.1:p.Tyr1438Cys
  • NP_001258211.1:p.Tyr1438Cys
  • NP_001278557.1:p.Tyr1438Cys
  • NP_085124.2:p.Tyr1438Cys
  • NP_803187.1:p.Tyr1438Cys
  • LRG_492t1:c.4313A>G
  • LRG_492:g.65816A>G
  • NC_000014.8:g.95562944T>C
  • NM_177438.2:c.4313A>G
Protein change:
Y1438C
Links:
dbSNP: rs1202589148
NCBI 1000 Genomes Browser:
rs1202589148
Molecular consequence:
  • NM_001195573.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271282.3:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291628.2:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030621.4:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177438.3:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002633212Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 15, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002633212.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Y1438C variant (also known as c.4313A>G), located in coding exon 22 of the DICER1 gene, results from an A to G substitution at nucleotide position 4313. The tyrosine at codon 1438 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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

Last Updated: Nov 18, 2024