NM_000352.6(ABCC8):c.423G>A (p.Val141=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Oct 29, 2013)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000145000.3

Allele description [Variation Report for NM_000352.6(ABCC8):c.423G>A (p.Val141=)]

NM_000352.6(ABCC8):c.423G>A (p.Val141=)

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.423G>A (p.Val141=)
HGVS:
  • NC_000011.10:g.17463594C>T
  • NG_008867.1:g.18309G>A
  • NM_000352.6:c.423G>AMANE SELECT
  • NM_001287174.2:c.423G>A
  • NM_001351295.2:c.423G>A
  • NM_001351296.2:c.423G>A
  • NM_001351297.2:c.423G>A
  • NP_000343.2:p.Val141=
  • NP_001274103.1:p.Val141=
  • NP_001338224.1:p.Val141=
  • NP_001338225.1:p.Val141=
  • NP_001338226.1:p.Val141=
  • LRG_790t1:c.423G>A
  • LRG_790:g.18309G>A
  • LRG_790p1:p.Val141=
  • NC_000011.9:g.17485141C>T
  • NM_000352.3:c.423G>A
  • NM_000352.4:c.423G>A
  • NM_000352.5:c.423G>A
  • NR_147094.2:n.492G>A
Links:
dbSNP: rs116132921
NCBI 1000 Genomes Browser:
rs116132921
Molecular consequence:
  • NR_147094.2:n.492G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000352.6:c.423G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001287174.2:c.423G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351295.2:c.423G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351296.2:c.423G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351297.2:c.423G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000192036Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely benign
(Oct 29, 2013)
germlineclinical testing

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

SCV000303810PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed

SCV000192036

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

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 Genetic Services Laboratory, University of Chicago, SCV000192036.1

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

From PreventionGenetics,PreventionGenetics, SCV000303810.1

#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: Jun 23, 2021

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