NM_021927.3(GUF1):c.42_43delinsCT (p.Leu15Phe) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 5, 2020
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:: RCV002004412.5

Allele description [Variation Report for NM_021927.3(GUF1):c.42_43delinsCT (p.Leu15Phe)]

NM_021927.3(GUF1):c.42_43delinsCT (p.Leu15Phe)

Genes:

LOC129992541:ATAC-STARR-seq lymphoblastoid silent region 15397 [Gene]
GUF1:GTP binding elongation factor GUF1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

4p12

Genomic location:

Preferred name:

NM_021927.3(GUF1):c.42_43delinsCT (p.Leu15Phe)

HGVS:

NC_000004.12:g.44678664_44678665delinsCT
NG_051569.1:g.5270_5271delinsCT
NM_001345867.2:c.-927_-926delinsCT
NM_001345868.2:c.42_43delinsCT
NM_001345869.2:c.-819_-818delinsCT
NM_021927.3:c.42_43delinsCTMANE SELECT
NP_001332797.1:p.Leu15Phe
NP_068746.2:p.Leu15Phe
NC_000004.11:g.44680681_44680682delinsCT

Protein change:

L15F

Links:

dbSNP: rs2109623952

NCBI 1000 Genomes Browser:

rs2109623952

Molecular consequence:

NM_001345867.2:c.-927_-926delinsCT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001345869.2:c.-819_-818delinsCT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001345868.2:c.42_43delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_021927.3:c.42_43delinsCT - 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
SCV002292611	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 5, 2020)	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

SCV002292611

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 5, 2020)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002292611.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with GUF1-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces leucine with phenylalanine at codon 15 of the GUF1 protein (p.Leu15Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine.

#	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: Sep 29, 2024

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