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NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly) AND not specified

Germline classification:
Benign (1 submission)
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:
RCV000247496.6

Allele description [Variation Report for NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly)]

NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly)

Gene:
RELN:reelin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly)
HGVS:
  • NC_000007.14:g.103989359CGC[10]
  • NG_011877.2:g.5137GGC[10]
  • NM_005045.4:c.-24GGC[10]MANE SELECT
  • NM_173054.3:c.-24GGC[10]
  • NP_005036.2:p.Met1_Glu2insGlyGly
  • NP_774959.1:p.Met1_Glu2insGlyGly
  • NC_000007.13:g.103629803_103629804insGCCGCC
  • NC_000007.13:g.103629806CGC[10]
  • NM_005045.3:c.-6_-1dupGGCGGC
  • NM_005045.4:c.-6_-1dupMANE SELECT
Links:
dbSNP: rs55656324
NCBI 1000 Genomes Browser:
rs55656324
Molecular consequence:
  • NM_005045.4:c.-24GGC[10] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_173054.3:c.-24GGC[10] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000310781PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000310781.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024