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NM_005861.4(STUB1):c.612+6_612+7delinsTT AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 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:
RCV003658983.2

Allele description [Variation Report for NM_005861.4(STUB1):c.612+6_612+7delinsTT]

NM_005861.4(STUB1):c.612+6_612+7delinsTT

Genes:
STUB1:STIP1 homology and U-box containing protein 1 [Gene - OMIM - HGNC]
JMJD8:jumonji domain containing 8 [Gene - HGNC]
Variant type:
Indel
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_005861.4(STUB1):c.612+6_612+7delinsTT
HGVS:
  • NC_000016.10:g.681886_681887delinsTT
  • NG_034141.1:g.6776_6777delinsTT
  • NG_132623.1:g.210_211delinsTT
  • NM_001005920.4:c.*907_*908delinsAAMANE SELECT
  • NM_001293197.2:c.396+6_396+7delinsTT
  • NM_001323918.3:c.*941_*942delinsAA
  • NM_001323919.3:c.*907_*908delinsAA
  • NM_001323920.3:c.*907_*908delinsAA
  • NM_001323922.3:c.*941_*942delinsAA
  • NM_005861.4:c.612+6_612+7delinsTTMANE SELECT
  • NC_000016.9:g.731886_731887delinsTT
  • NR_136650.3:n.1800_1801delinsAA
  • NR_136651.3:n.1805_1806delinsAA
  • NR_136652.3:n.1715_1716delinsAA
Molecular consequence:
  • NM_001005920.4:c.*907_*908delinsAA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001323918.3:c.*941_*942delinsAA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001323919.3:c.*907_*908delinsAA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001323920.3:c.*907_*908delinsAA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001323922.3:c.*941_*942delinsAA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001293197.2:c.396+6_396+7delinsTT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005861.4:c.612+6_612+7delinsTT - intron variant - [Sequence Ontology: SO:0001627]
  • NR_136650.3:n.1800_1801delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136651.3:n.1805_1806delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136652.3:n.1715_1716delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004370741Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(May 23, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]
PMID:
17576681
PMCID:
PMC1934990

Statistical features of human exons and their flanking regions.

Zhang MQ.

Hum Mol Genet. 1998 May;7(5):919-32.

PubMed [citation]
PMID:
9536098
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004370741.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change falls in intron 4 of the STUB1 gene. It does not directly change the encoded amino acid sequence of the STUB1 protein. It affects a nucleotide within the consensus splice site. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with STUB1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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.

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

Last Updated: Oct 8, 2024