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NM_020297.4(ABCC9):c.142+10C>A AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 13, 2016
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:
RCV000426612.1

Allele description [Variation Report for NM_020297.4(ABCC9):c.142+10C>A]

NM_020297.4(ABCC9):c.142+10C>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.142+10C>A
HGVS:
  • NC_000012.12:g.21936523G>T
  • NG_012819.1:g.5172C>A
  • NM_001377273.1:c.142+10C>A
  • NM_001377274.1:c.-313+10C>A
  • NM_005691.4:c.142+10C>A
  • NM_020297.4:c.142+10C>AMANE SELECT
  • LRG_377t1:c.142+10C>A
  • LRG_377:g.5172C>A
  • NC_000012.11:g.22089457G>T
  • NM_005691.3:c.142+10C>A
  • NM_020297.2:c.142+10C>A
Links:
dbSNP: rs138917284
NCBI 1000 Genomes Browser:
rs138917284
Molecular consequence:
  • NM_001377273.1:c.142+10C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377274.1:c.-313+10C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005691.4:c.142+10C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020297.4:c.142+10C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000511917GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Oct 13, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000511917.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024