NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr) AND Dyskeratosis congenita, autosomal dominant 6

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 21, 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:: RCV002867414.3

Allele description [Variation Report for NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)]

NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)

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.935_949del (p.Ser312_Pro317delinsThr)

HGVS:

NC_000016.10:g.67658243_67658257del
NG_042874.1:g.7559_7573del
NG_054728.1:g.18325_18339del
NM_001082486.2:c.935_949delMANE SELECT
NM_001410884.1:c.848_862delGCTCCCAGCCCTCAC
NM_022914.3:c.926_940del
NP_001075955.2:p.Ser312_Pro317delinsThr
NP_001397813.1:p.Ser283_Pro288delinsThr
NP_075065.3:p.Ser309_Pro314delinsThr
LRG_1237t1:c.935_949del
LRG_1237:g.7559_7573del
LRG_1237p1:p.Ser312_Pro317delinsThr
NC_000016.9:g.67692146_67692160del

Molecular consequence:

NM_001082486.2:c.935_949del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001410884.1:c.848_862delGCTCCCAGCCCTCAC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_022914.3:c.926_940del - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV003236245	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 21, 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

SCV003236245

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 21, 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, SCV003236245.2

#	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 variant, c.1193_1207del, is a complex sequence change that results in the deletion of 6 and insertion of 1 amino acid(s) in the ACD protein (p.Ser398_Pro403delinsThr).

#	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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