NM_001287174.1(ABCC8):c.4159_4161delTCC (p.Ser1387del)

Variation ID: Help
9100
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 1, 2003
Number of submission(s):
1
Condition(s):
Persistent hyperinsulinemic hypoglycemia of infancy[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001287174.1(ABCC8):c.4159_4161delTCC (p.Ser1387del)

Allele ID:
24139
Variant type:
Deletion
Cytogenetic location:
11p15.1
Genomic location:
  • Chr11: 17395892 - 17395894 (on Assembly GRCh38)
  • Chr11: 17417439 - 17417441 (on Assembly GRCh37)
Other names:
  • ABCC8, 3-BP DEL, SER1387DEL
Protein change:
S1386del, S1387del
HGVS:
  • NG_008867.1:g.86009_86011delTCC
  • NM_000352.4:c.4156_4158delTCC
  • NM_001287174.1:c.4159_4161delTCC
  • NC_000011.10:g.17395892_17395894delGGA (GRCh38)
  • NP_000343.2:p.Ser1386del
  • NP_001274103.1:p.Ser1387del
  • NC_000011.9:g.17417439_17417441delGGA (GRCh37)
  • NM_000352.3:c.4156_4158delTCC
Links:
NCBI 1000 Genomes Browser:
rs387906408
Molecular consequence:
NM_001287174.1:c.4159_4161delTCC: inframe_variant [Sequence Ontology SO:0001650]

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Sep 1, 2003)
no assertion criteria providedliterature onlygermlineOMIM

(Dec 30, 2010)

SCV000029886.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedPersistent hyperinsulinemic hypoglycemia of infancy (not provided)not providednot providedIn 5 affected members of the 3-generation family ('family 1') with hyperinsulinemic hypoglycemia (256450) originally reported by Thornton et al. (1998…Full description

Last Updated: Jan 20, 2016