NM_004176.5(SREBF1):c.1289C>A (p.Ser430Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 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:: RCV002585685.3

Allele description [Variation Report for NM_004176.5(SREBF1):c.1289C>A (p.Ser430Ter)]

NM_004176.5(SREBF1):c.1289C>A (p.Ser430Ter)

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.1289C>A (p.Ser430Ter)

HGVS:

NC_000017.11:g.17817811G>T
NG_029029.1:g.24201C>A
NM_001005291.3:c.1379C>A
NM_001321096.3:c.1217C>A
NM_001388385.1:c.1289C>A
NM_001388386.1:c.1289C>A
NM_001388387.1:c.1289C>A
NM_001388388.1:c.1244C>A
NM_001388389.1:c.1283C>A
NM_001388390.1:c.1271C>A
NM_001388391.1:c.1262C>A
NM_001388392.1:c.1067C>A
NM_001388393.1:c.1289C>A
NM_001388394.1:c.857C>A
NM_004176.5:c.1289C>AMANE SELECT
NP_001005291.1:p.Ser460Ter
NP_001308025.1:p.Ser406Ter
NP_001375314.1:p.Ser430Ter
NP_001375315.1:p.Ser430Ter
NP_001375316.1:p.Ser430Ter
NP_001375317.1:p.Ser415Ter
NP_001375318.1:p.Ser428Ter
NP_001375319.1:p.Ser424Ter
NP_001375320.1:p.Ser421Ter
NP_001375321.1:p.Ser356Ter
NP_001375322.1:p.Ser430Ter
NP_001375323.1:p.Ser286Ter
NP_004167.3:p.Ser430Ter
NC_000017.10:g.17721125G>T
NR_170943.1:n.1458C>A
NR_170944.1:n.1458C>A
NR_170945.1:n.1548C>A
NR_170990.1:n.1458C>A

Protein change:

S286*

Molecular consequence:

NR_170943.1:n.1458C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170944.1:n.1458C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170945.1:n.1548C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170990.1:n.1458C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001005291.3:c.1379C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001321096.3:c.1217C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001388385.1:c.1289C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001388386.1:c.1289C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001388387.1:c.1289C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001388388.1:c.1244C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001388389.1:c.1283C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001388390.1:c.1271C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001388391.1:c.1262C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001388392.1:c.1067C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001388393.1:c.1289C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001388394.1:c.857C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_004176.5:c.1289C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV003493914	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 25, 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

SCV003493914

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 25, 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

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, SCV003493914.2

#	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. This variant has not been reported in the literature in individuals affected with SREBF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser430*) in the SREBF1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SREBF1 cause disease.

#	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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