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NM_001082486.2(ACD):c.152del (p.Thr51fs) AND Dyskeratosis congenita, autosomal dominant 6

Germline classification:
Likely pathogenic (1 submission)
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:
RCV004585160.1

Allele description [Variation Report for NM_001082486.2(ACD):c.152del (p.Thr51fs)]

NM_001082486.2(ACD):c.152del (p.Thr51fs)

Gene:
ACD:ACD shelterin complex subunit and telomerase recruitment factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_001082486.2(ACD):c.152del (p.Thr51fs)
HGVS:
  • NC_000016.10:g.67659993del
  • NG_042874.1:g.5823del
  • NG_134089.1:g.504del
  • NM_001082486.2:c.152delMANE SELECT
  • NM_001410884.1:c.152del
  • NM_022914.3:c.143del
  • NP_001075955.2:p.Thr51fs
  • NP_001397813.1:p.Thr51fs
  • NP_075065.3:p.Thr48fs
  • LRG_1237t1:c.152del
  • LRG_1237:g.5823del
  • LRG_1237p1:p.Thr51fs
  • NC_000016.9:g.67693896del
Protein change:
T48fs
Molecular consequence:
  • NM_001082486.2:c.152del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001410884.1:c.152del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_022914.3:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Dyskeratosis congenita, autosomal dominant 6 (DKCA6)
Identifiers:
MONDO: MONDO:0014690; MedGen: C4225284; Orphanet: 3322; OMIM: 616553

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005073869Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenicgermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Neuberg Centre For Genomic Medicine, NCGM, SCV005073869.1

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

Description

The observed frameshift variant c.152del (p.Thr51SerfsTer21) in the ACD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.0004% in the gnomAD Exomes. This variant causes a frameshift starting with codon Threonine 51, changes this amino acid to Serine residue, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Thr51SerfsTer21. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing (Kocak H, et al., 2014). For these reasons, this variant has been classified as Likely Pathogenic.

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

Last Updated: Jul 23, 2024