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NM_000349.3(STAR):c.677del (p.Val226fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 7, 2021
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:
RCV001868243.5

Allele description

NM_000349.3(STAR):c.677del (p.Val226fs)

Gene:
STAR:steroidogenic acute regulatory protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8p11.23
Genomic location:
Preferred name:
NM_000349.3(STAR):c.677del (p.Val226fs)
HGVS:
  • NC_000008.11:g.38145289del
  • NG_011827.1:g.10794del
  • NM_000349.3:c.677delMANE SELECT
  • NP_000340.2:p.Val226fs
  • NC_000008.10:g.38002807del
  • NM_000349.2:c.677delT
Protein change:
V226fs
Links:
dbSNP: rs1554502732
NCBI 1000 Genomes Browser:
rs1554502732
Molecular consequence:
  • NM_000349.3:c.677del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002121496Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 7, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Invitae, SCV002121496.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the STAR protein. Other variant(s) that result in a similarly extended protein product (p.Leu271Cysfs*50) have been determined to be pathogenic (Invitae). This suggests that these extensions are likely to be causative of disease. This variant has not been reported in the literature in individuals with STAR-related conditions. ClinVar contains an entry for this variant (Variation ID: 554752). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the STAR gene (p.Val226Glyfs*95). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acid(s) of the STAR protein and extend the protein by 34 additional amino acid residues.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024