NM_198253.3(TERT):c.751G>T (p.Val251Phe) AND Dyskeratosis congenita

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 23, 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:: RCV004559854.1

Allele description [Variation Report for NM_198253.3(TERT):c.751G>T (p.Val251Phe)]

NM_198253.3(TERT):c.751G>T (p.Val251Phe)

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.751G>T (p.Val251Phe)

HGVS:

NC_000005.10:g.1294135C>A
NG_009265.1:g.5913G>T
NM_001193376.3:c.751G>T
NM_198253.3:c.751G>TMANE SELECT
NP_001180305.1:p.Val251Phe
NP_937983.2:p.Val251Phe
LRG_343t1:c.751G>T
LRG_343:g.5913G>T
NC_000005.9:g.1294250C>A
NM_198253.2:c.751G>T
NR_149162.3:n.830G>T
NR_149163.3:n.830G>T

Protein change:

V251F

Links:

dbSNP: rs776569822

NCBI 1000 Genomes Browser:

rs776569822

Molecular consequence:

NM_001193376.3:c.751G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198253.3:c.751G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_149162.3:n.830G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149163.3:n.830G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dyskeratosis congenita
Identifiers:: MONDO: MONDO:0015780; MedGen: C0265965; OMIM: PS127550

Recent activity

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DUF3613 domain-containing protein [Pseudomonas sp. UW4]
DUF3613 domain-containing protein [Pseudomonas sp. UW4]
gi|504909307|ref|WP_015096409.1|

Protein
PREDICTED: Mus musculus SID1 transmembrane family, member 2 (Sidt2), transcript ...
PREDICTED: Mus musculus SID1 transmembrane family, member 2 (Sidt2), transcript variant X3, mRNA
gi|1907196506|ref|XM_006510143.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002669117	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 23, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002669117

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 23, 2022)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002669117.2

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

Description

The p.V251F variant (also known as c.751G>T), located in coding exon 2 of the TERT gene, results from a G to T substitution at nucleotide position 751. The valine at codon 251 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 10, 2024

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