U.S. flag

An official website of the United States government

NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 4, 2018
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:
RCV000658420.1

Allele description [Variation Report for NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile)]

NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile)

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.2312C>T (p.Thr771Ile)
HGVS:
  • NC_000012.12:g.21862980G>A
  • NG_012819.1:g.78715C>T
  • NM_001377273.1:c.2312C>T
  • NM_001377274.1:c.1445C>T
  • NM_005691.4:c.2312C>T
  • NM_020297.4:c.2312C>TMANE SELECT
  • NP_001364202.1:p.Thr771Ile
  • NP_001364203.1:p.Thr482Ile
  • NP_005682.2:p.Thr771Ile
  • NP_064693.2:p.Thr771Ile
  • LRG_377t1:c.2312C>T
  • LRG_377t2:c.2312C>T
  • LRG_377:g.78715C>T
  • NC_000012.11:g.22015914G>A
  • NM_005691.2:c.2312C>T
  • NM_020297.2:c.2312C>T
Protein change:
T482I
Links:
dbSNP: rs180739851
NCBI 1000 Genomes Browser:
rs180739851
Molecular consequence:
  • NM_001377273.1:c.2312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377274.1:c.1445C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005691.4:c.2312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020297.4:c.2312C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000780192GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 4, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000780192.2

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

Description

The T771I variant of uncertain significance in the ABCC9 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 7/33,466 alleles from individuals of Latino ancestry in large population cohorts (Lek et al., 2016). The T771I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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

Last Updated: Sep 29, 2024