NM_198253.3(TERT):c.2007G>A (p.Arg669=) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 12, 2022
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:: RCV003224621.8

Allele description [Variation Report for NM_198253.3(TERT):c.2007G>A (p.Arg669=)]

NM_198253.3(TERT):c.2007G>A (p.Arg669=)

Gene:

TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

Preferred name:

NM_198253.3(TERT):c.2007G>A (p.Arg669=)

HGVS:

NC_000005.10:g.1279414C>T
NG_009265.1:g.20634G>A
NM_001193376.3:c.2007G>A
NM_198253.3:c.2007G>AMANE SELECT
NP_001180305.1:p.Arg669=
NP_937983.2:p.Arg669=
LRG_343t1:c.2007G>A
LRG_343:g.20634G>A
NC_000005.9:g.1279529C>T
NM_198253.2:c.2007G>A
NR_149162.3:n.2086G>A
NR_149163.3:n.2086G>A

Links:

dbSNP: rs1060504788

NCBI 1000 Genomes Browser:

rs1060504788

Molecular consequence:

NR_149162.3:n.2086G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149163.3:n.2086G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001193376.3:c.2007G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_198253.3:c.2007G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Acute myeloid leukemia (AML)
Synonyms:: Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

Name:: Dyskeratosis congenita, autosomal dominant 2
Identifiers:: MONDO: MONDO:0013521; MedGen: C3151443; OMIM: 613989

Name:: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Synonyms:: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1
Identifiers:: MONDO: MONDO:0013878; MedGen: C3553617; Orphanet: 88; OMIM: 614742

Name:: Melanoma, cutaneous malignant, susceptibility to, 9
Synonyms:: Cutaneous malignant melanoma 9
Identifiers:: MONDO: MONDO:0014056; MedGen: C3554574; Orphanet: 618; OMIM: 615134

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003920546	Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Oct 12, 2022)	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

SCV003920546

Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Oct 12, 2022)

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	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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003920546.1

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

Description

This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID: 1670589). This is a silent variant and does not change the amino acid and is not predicted to impact splicing; additionally, this nucleotide position is not well-conserved evolutionarily, reducing the probability that this variant is disease-causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

#	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: Oct 8, 2024

ClinVar

Relating variation to medicine