NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Jul 7, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001811980.16

Allele description [Variation Report for NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)]

NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)

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.3553G>A (p.Ala1185Thr)

Other names:

NM_177438.3(DICER1):c.3553G>A; p.Ala1185Thr

HGVS:

NC_000014.9:g.95103843C>T
NG_016311.1:g.58580G>A
NM_001195573.1:c.3553G>A
NM_001271282.3:c.3553G>A
NM_001291628.2:c.3553G>A
NM_030621.4:c.3553G>A
NM_177438.3:c.3553G>AMANE SELECT
NP_001182502.1:p.Ala1185Thr
NP_001258211.1:p.Ala1185Thr
NP_001278557.1:p.Ala1185Thr
NP_085124.2:p.Ala1185Thr
NP_803187.1:p.Ala1185Thr
NP_803187.1:p.Ala1185Thr
LRG_492t1:c.3553G>A
LRG_492:g.58580G>A
LRG_492p1:p.Ala1185Thr
NC_000014.8:g.95570180C>T
NM_177438.2:c.3553G>A

Protein change:

A1185T

Links:

dbSNP: rs150514959

NCBI 1000 Genomes Browser:

rs150514959

Molecular consequence:

NM_001195573.1:c.3553G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271282.3:c.3553G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001291628.2:c.3553G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_030621.4:c.3553G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_177438.3:c.3553G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001474506	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Sep 14, 2019)	germline	clinical testing	Citation Link,
SCV002817854	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 7, 2023)	germline	clinical testing	Citation Link,
SCV003834663	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 3, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001474506

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Sep 14, 2019)

germline

clinical testing

Citation Link,

SCV002817854

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 7, 2023)

germline

clinical testing

Citation Link,

SCV003834663

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 3, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001474506.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The DICER1 c.3553G>A; p.Ala1185Thr variant (rs150514959), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 133970). This variant is found in the general population with an overall allele frequency of 0.02% (49/282800 alleles) in the Genome Aggregation Database. The alanine at codon 1185 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV002817854.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Identified in healthy individuals undergoing whole genome sequencing (Bodian et al., 2014); This variant is associated with the following publications: (PMID: 24728327)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003834663.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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