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NM_020297.4(ABCC9):c.4512+777G>A AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jul 31, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000177943.6

Allele description [Variation Report for NM_020297.4(ABCC9):c.4512+777G>A]

NM_020297.4(ABCC9):c.4512+777G>A

Gene:
ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_020297.4(ABCC9):c.4512+777G>A
HGVS:
  • NC_000012.12:g.21805221C>T
  • NG_012819.1:g.136474G>A
  • NM_001377273.1:c.4512+777G>A
  • NM_001377274.1:c.3645+777G>A
  • NM_005691.4:c.4603G>A
  • NM_020297.4:c.4512+777G>AMANE SELECT
  • NP_005682.2:p.Ala1535Thr
  • LRG_377t2:c.4603G>A
  • LRG_377:g.136474G>A
  • NC_000012.11:g.21958155C>T
  • NM_005691.2:c.4603G>A
  • NM_005691.3:c.4603G>A
Protein change:
A1535T
Links:
dbSNP: rs542730918
NCBI 1000 Genomes Browser:
rs542730918
Molecular consequence:
  • NM_001377273.1:c.4512+777G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377274.1:c.3645+777G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020297.4:c.4512+777G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005691.4:c.4603G>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000229905Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Sep 1, 2014) 		germlineclinical testing

Citation Link,

SCV001991438GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 31, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000229905.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001991438.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024