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NM_000352.6(ABCC8):c.291-3C>T AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jul 19, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000710052.4

Allele description [Variation Report for NM_000352.6(ABCC8):c.291-3C>T]

NM_000352.6(ABCC8):c.291-3C>T

Gene:
ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000352.6(ABCC8):c.291-3C>T
HGVS:
  • NC_000011.10:g.17470225G>A
  • NG_008867.1:g.11678C>T
  • NM_000352.6:c.291-3C>TMANE SELECT
  • NM_001287174.3:c.291-3C>T
  • NM_001351295.2:c.291-3C>T
  • NM_001351296.2:c.291-3C>T
  • NM_001351297.2:c.291-3C>T
  • LRG_790t1:c.291-3C>T
  • LRG_790t2:c.291-3C>T
  • LRG_790:g.11678C>T
  • NC_000011.9:g.17491772G>A
  • NC_000011.9:g.17491772G>A
  • NM_000352.3:c.291-3C>T
  • NM_000352.4:c.291-3C>T
Links:
dbSNP: rs764107333
NCBI 1000 Genomes Browser:
rs764107333
Molecular consequence:
  • NM_000352.6:c.291-3C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001287174.3:c.291-3C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351295.2:c.291-3C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351296.2:c.291-3C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351297.2:c.291-3C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV000840432MVZ Dr. Eberhard & Partner Dortmund
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Apr 27, 2018) 		unknownclinical testing

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

SCV003275277Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 19, 2022) 		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
not providedunknownunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

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
See all PubMed Citations (4)

Details of each submission

From MVZ Dr. Eberhard & Partner Dortmund, SCV000840432.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This variant was found in an individual with a c.2993G>C mutation in ABCC8.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

From Invitae, SCV003275277.1

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

Description

This sequence change falls in intron 2 of the ABCC8 gene. It does not directly change the encoded amino acid sequence of the ABCC8 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs764107333, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ABCC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 303788). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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: Mar 16, 2024