NM_001082486.2(ACD):c.115_133dup (p.Pro45fs) AND Dyskeratosis congenita, autosomal dominant 6

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 1, 2022
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:: RCV002872492.3

Allele description [Variation Report for NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)]

NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)

Gene:

ACD:ACD shelterin complex subunit and telomerase recruitment factor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)

HGVS:

NC_000016.10:g.67660015_67660033dup
NG_042874.1:g.5786_5804dup
NG_134089.1:g.526_544dup
NM_001082486.2:c.115_133dupMANE SELECT
NM_001410884.1:c.112_130dup
NM_022914.3:c.106_124dup
NP_001075955.2:p.Pro45fs
NP_001397813.1:p.Pro45Argfs
NP_075065.3:p.Pro42fs
LRG_1237t1:c.115_133dup
LRG_1237:g.5786_5804dup
LRG_1237p1:p.Pro45fs
NC_000016.9:g.67693914_67693915insGGCCCGCGACCGCGGCCTC
NC_000016.9:g.67693918_67693936dup

Protein change:

P42fs

Molecular consequence:

NM_001082486.2:c.115_133dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001410884.1:c.112_130dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022914.3:c.106_124dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003239148	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 1, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003239148

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 1, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003239148.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro131Argfs*12) in the ACD gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACD cause disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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