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NM_020297.4(ABCC9):c.2928_2929dup (p.Met977fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 2021
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:
RCV002223985.1

Allele description [Variation Report for NM_020297.4(ABCC9):c.2928_2929dup (p.Met977fs)]

NM_020297.4(ABCC9):c.2928_2929dup (p.Met977fs)

Gene:
ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_020297.4(ABCC9):c.2928_2929dup (p.Met977fs)
HGVS:
  • NC_000012.12:g.21845772_21845773dup
  • NG_012819.1:g.95924_95925dup
  • NM_001377273.1:c.2928_2929dup
  • NM_001377274.1:c.2061_2062dup
  • NM_005691.4:c.2928_2929dup
  • NM_020297.4:c.2928_2929dupMANE SELECT
  • NP_001364202.1:p.Met977fs
  • NP_001364203.1:p.Met688fs
  • NP_005682.2:p.Met977fs
  • NP_005682.2:p.Met977fs
  • NP_064693.2:p.Met977fs
  • LRG_377:g.95924_95925dup
  • NC_000012.11:g.21998703_21998704insTT
  • NC_000012.11:g.21998706_21998707dup
  • NM_005691.3:c.2928_2929dup
Protein change:
M688fs
Links:
dbSNP: rs1565731854
NCBI 1000 Genomes Browser:
rs1565731854
Molecular consequence:
  • NM_001377273.1:c.2928_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377274.1:c.2061_2062dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005691.4:c.2928_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020297.4:c.2928_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

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
SCV002502488AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 21, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not 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 AiLife Diagnostics, AiLife Diagnostics, SCV002502488.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2024