NM_004176.5(SREBF1):c.2686C>T (p.Arg896Trp) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 10, 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:: RCV002939441.2

Allele description [Variation Report for NM_004176.5(SREBF1):c.2686C>T (p.Arg896Trp)]

NM_004176.5(SREBF1):c.2686C>T (p.Arg896Trp)

Gene:

SREBF1:sterol regulatory element binding transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_004176.5(SREBF1):c.2686C>T (p.Arg896Trp)

HGVS:

NC_000017.11:g.17814664G>A
NG_029029.1:g.27348C>T
NM_001005291.3:c.2776C>T
NM_001321096.3:c.2614C>T
NM_001388385.1:c.2773C>T
NM_001388386.1:c.2686C>T
NM_001388387.1:c.2725C>T
NM_001388388.1:c.2641C>T
NM_001388389.1:c.2680C>T
NM_001388390.1:c.2668C>T
NM_001388391.1:c.2659C>T
NM_001388392.1:c.2464C>T
NM_001388393.1:c.2305C>T
NM_001388394.1:c.2254C>T
NM_004176.5:c.2686C>TMANE SELECT
NP_001005291.1:p.Arg926Trp
NP_001308025.1:p.Arg872Trp
NP_001375314.1:p.Arg925Trp
NP_001375315.1:p.Arg896Trp
NP_001375316.1:p.Arg909Trp
NP_001375317.1:p.Arg881Trp
NP_001375318.1:p.Arg894Trp
NP_001375319.1:p.Arg890Trp
NP_001375320.1:p.Arg887Trp
NP_001375321.1:p.Arg822Trp
NP_001375322.1:p.Arg769Trp
NP_001375323.1:p.Arg752Trp
NP_004167.3:p.Arg896Trp
NC_000017.10:g.17717978G>A
NM_004176.4:c.2686C>T
NR_170943.1:n.2855C>T
NR_170944.1:n.2855C>T
NR_170945.1:n.2945C>T
NR_170990.1:n.2855C>T

Protein change:

R752W

Molecular consequence:

NM_001005291.3:c.2776C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001321096.3:c.2614C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001388385.1:c.2773C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001388386.1:c.2686C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001388387.1:c.2725C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001388388.1:c.2641C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001388389.1:c.2680C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001388390.1:c.2668C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001388391.1:c.2659C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001388392.1:c.2464C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001388393.1:c.2305C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001388394.1:c.2254C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004176.5:c.2686C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_170943.1:n.2855C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170944.1:n.2855C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170945.1:n.2945C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170990.1:n.2855C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003664313	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 10, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003664313

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 10, 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, SCV003664313.2

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

Description

The c.2686C>T (p.R896W) alteration is located in exon 15 (coding exon 15) of the SREBF1 gene. This alteration results from a C to T substitution at nucleotide position 2686, causing the arginine (R) at amino acid position 896 to be replaced by a tryptophan (W). 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 1, 2024

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