U.S. flag

An official website of the United States government

NM_001171.6(ABCC6):c.4242dup (p.Ala1415fs) AND ABCC6-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 2023
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:
RCV004528639.1

Allele description [Variation Report for NM_001171.6(ABCC6):c.4242dup (p.Ala1415fs)]

NM_001171.6(ABCC6):c.4242dup (p.Ala1415fs)

Gene:
ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
NM_001171.6(ABCC6):c.4242dup (p.Ala1415fs)
HGVS:
  • NC_000016.10:g.16150739dup
  • NG_007558.3:g.77879dup
  • NM_001171.6:c.4242dupMANE SELECT
  • NM_001351800.1:c.3900dup
  • NP_001162.5:p.Ala1415fs
  • NP_001338729.1:p.Ala1301fs
  • LRG_1115t1:c.4242dup
  • LRG_1115:g.77879dup
  • LRG_1115p1:p.Ala1415fs
  • NC_000016.9:g.16244596dup
  • NM_001171.5:c.4242dupT
  • NR_147784.1:n.3904dup
Protein change:
A1301fs
Molecular consequence:
  • NM_001171.6:c.4242dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351800.1:c.3900dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_147784.1:n.3904dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
ABCC6-related disorder
Synonyms:
ABCC6-related condition
Identifiers:

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
SCV004107644PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 29, 2023) 		germlineclinical testing

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

Help

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, SCV004107644.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The ABCC6 c.4242dupT variant is predicted to result in a frameshift and premature protein termination (p.Ala1415Cysfs*113). XXXXX, which is predicted to result in a stop loss and a C-terminal extension (p.Ala1415Cysfs*113). Of note, the canonical stop codon is located at p.1504. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 3, 2024