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NM_001379286.1(ZNF423):c.100+13G>A 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:
RCV000254382.5

Allele description [Variation Report for NM_001379286.1(ZNF423):c.100+13G>A]

NM_001379286.1(ZNF423):c.100+13G>A

Gene:
ZNF423:zinc finger protein 423 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.1
Genomic location:
Preferred name:
NM_001379286.1(ZNF423):c.100+13G>A
HGVS:
  • NC_000016.10:g.49789474C>T
  • NG_032972.2:g.73446G>A
  • NM_001271620.2:c.-105+13G>A
  • NM_001379286.1:c.100+13G>AMANE SELECT
  • NM_015069.5:c.76+13G>A
  • NC_000016.9:g.49823385C>T
  • NM_015069.3:c.76+13G>A
Links:
dbSNP: rs143660882
NCBI 1000 Genomes Browser:
rs143660882
Molecular consequence:
  • NM_001271620.2:c.-105+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379286.1:c.100+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015069.5:c.76+13G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000312351PreventionGenetics, 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, SCV000312351.1

#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: Sep 29, 2024