chr14:95107680:C>G Detail (hg38) (DICER1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr14:95,574,017-95,574,017 View the variant detail on this assembly version.
hg38	chr14:95,107,680-95,107,680

HGVS

DICER1

Type	Transcript	Protein
RefSeq	NM_177438.2:c.2732G>C	NP_803187.1:p.Ser911Thr
	NM_001291628.1:c.2732G>C	NP_001278557.1:p.Ser911Thr
	NM_030621.4:c.2732G>C	NP_085124.2:p.Ser911Thr
	NM_001271282.2:c.2732G>C	NP_001258211.1:p.Ser911Thr
	NM_001195573.1:c.2732G>C	NP_001182502.1:p.Ser911Thr
Ensemble	ENST00000343455.8:c.2732G>C	ENST00000343455.8:p.Ser911Thr
	ENST00000393063.6:c.2732G>C	ENST00000393063.6:p.Ser911Thr
	ENST00000526495.6:c.2732G>C	ENST00000526495.6:p.Ser911Thr
	ENST00000527414.5:c.2732G>C	ENST00000527414.5:p.Ser911Thr
	ENST00000529720.2:c.2732G>C	ENST00000529720.2:p.Ser911Thr
	ENST00000531162.7:c.2732G>C	ENST00000531162.7:p.Ser911Thr
	ENST00000532939.3:c.2732G>C	ENST00000532939.3:p.Ser911Thr
	ENST00000541352.5:c.2732G>C	ENST00000541352.5:p.Ser911Thr
	ENST00000674628.2:c.2732G>C	ENST00000674628.2:p.Ser911Thr
	ENST00000696736.1:c.2732G>C	ENST00000696736.1:p.Ser911Thr
	ENST00000696737.1:c.2732G>C	ENST00000696737.1:p.Ser911Thr

Summary

MGeND

Clinical significance	Uncertain significance
Variant entry	6
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

DICER1

Type	Database	ID	Link
Gene	MIM	606241	OMIM
	HGNC	17098	HGNC
	Ensembl	ENSG00000100697	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv389497467	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Uncertain significance	2020/10/07	bone and articular cartilage, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Uncertain significance	2020/10/07	thyroid gland	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Uncertain significance	2020/10/07	carcinoma in situ of breast, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Uncertain significance	2020/10/07	li-fraumeni syndrome	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Uncertain significance	2020/10/07	breast, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Uncertain significance	2020/10/07	cortex of adrenal gland	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-05-05	criteria provided, single submitter	DICER1-related tumor predisposition	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_177438.3(DICER1):c.2732G>C (p.Ser911Thr) AND DICER1-related tumor predisposition	ClinVar	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr14:95,107,680-95,107,680
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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