chr5:1279311:G>A Detail (hg38) (TERT)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr5:1,279,426-1,279,426 View the variant detail on this assembly version.
hg38	chr5:1,279,311-1,279,311

HGVS

TERT

Type	Transcript	Protein
RefSeq	NM_001193376.1:c.2110C>T	NP_001180305.1:p.Pro704Ser
	NM_198253.2:c.2110C>T	NP_937983.2:p.Pro704Ser
Ensemble	ENST00000310581.10:c.2110C>T	ENST00000310581.10:p.Pro704Ser
	ENST00000334602.10:c.2110C>T	ENST00000334602.10:p.Pro704Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

TERT

Type	Database	ID	Link
Gene	MIM	187270	OMIM
	HGNC	11730	HGNC
	Ensembl	ENSG00000164362	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-02-01	no assertion criteria provided	autosomal recessive dyskeratosis congenita 4	germline	Detail
not provided		no assertion provided	Dyskeratosis congenita, autosomal dominant 1	unknown	Detail
Pathogenic	2022-02-22	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-09-16	criteria provided, single submitter	Hereditary cancer-predisposing syndrome,dyskeratosis congenita	germline	Detail
Pathogenic	2021-09-16	criteria provided, single submitter	Hereditary cancer-predisposing syndrome,dyskeratosis congenita	germline	Detail
Likely risk allele	2022-06-09	no assertion criteria provided		germline	Detail
Likely pathogenic	2023-12-30	criteria provided, single submitter	Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2	germline	Detail
Likely pathogenic	2023-12-30	criteria provided, single submitter	Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2	germline	Detail
Pathogenic	2023-09-27	criteria provided, single submitter	Dyskeratosis congenita, autosomal dominant 2	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.241	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	NA	CLINVAR		Detail
0.120	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) AND Autosomal recessive dyskeratosis congenita 4	ClinVar	Detail
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) AND Dyskeratosis congenita, autosomal dominant 1	ClinVar	Detail
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) AND not provided	ClinVar	Detail
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) AND multiple conditions	ClinVar	Detail
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) AND multiple conditions	ClinVar	Detail
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) AND Pulmonary fibrosis	ClinVar	Detail
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) AND multiple conditions	ClinVar	Detail
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) AND multiple conditions	ClinVar	Detail
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) AND Dyskeratosis congenita, autosomal dominant 2	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: -
dbSNP: rs199422297 dbSNP
Genome: hg38
Position: chr5:1,279,311-1,279,311
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser