NM_024680.4(E2F8):c.758T>G (p.Phe253Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 25, 2023
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:: RCV004382161.1

Allele description [Variation Report for NM_024680.4(E2F8):c.758T>G (p.Phe253Cys)]

NM_024680.4(E2F8):c.758T>G (p.Phe253Cys)

Genes:

CSRP3-AS1:CSRP3 and E2F8 antisense RNA 1 [Gene - HGNC]
E2F8:E2F transcription factor 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_024680.4(E2F8):c.758T>G (p.Phe253Cys)

HGVS:

NC_000011.10:g.19234752A>C
NM_001256371.2:c.758T>G
NM_001256372.1:c.758T>G
NM_024680.4:c.758T>GMANE SELECT
NP_001243300.1:p.Phe253Cys
NP_001243301.1:p.Phe253Cys
NP_078956.2:p.Phe253Cys
NC_000011.9:g.19256299A>C
NM_024680.2:c.758T>G

Protein change:

F253C

Molecular consequence:

NM_001256371.2:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001256372.1:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024680.4:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Chain A, PROTEIN (TRANSCRIPTION FACTOR E2F-4)
Chain A, PROTEIN (TRANSCRIPTION FACTOR E2F-4)
gi|4699550|pdb|1CF7|A

Protein
LOC118238806 [Cricetulus griseus]
LOC118238806 [Cricetulus griseus]
Gene ID:118238806

Gene

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
SCV004864071	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 25, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004864071

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 25, 2023)

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, SCV004864071.1

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

Description

The c.758T>G (p.F253C) alteration is located in exon 5 (coding exon 4) of the E2F8 gene. This alteration results from a T to G substitution at nucleotide position 758, causing the phenylalanine (F) at amino acid position 253 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, 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: May 7, 2024

ClinVar

Relating variation to medicine