NM_001082486.2(ACD):c.862G>A (p.Glu288Lys) AND ACD-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 28, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003911089.2

Allele description [Variation Report for NM_001082486.2(ACD):c.862G>A (p.Glu288Lys)]

NM_001082486.2(ACD):c.862G>A (p.Glu288Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_001082486.2(ACD):c.862G>A (p.Glu288Lys)

HGVS:

NC_000016.10:g.67658330C>T
NG_042874.1:g.7486G>A
NG_054728.1:g.18412C>T
NM_001082486.2:c.862G>AMANE SELECT
NM_022914.3:c.853G>A
NP_001075955.2:p.Glu288Lys
NP_075065.3:p.Glu285Lys
LRG_1237t1:c.862G>A
LRG_1237:g.7486G>A
LRG_1237p1:p.Glu288Lys
NC_000016.9:g.67692233C>T
NM_001082486.1:c.1120G>A

Protein change:

E285K

Links:

dbSNP: rs200298308

Molecular consequence:

NM_001082486.2:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022914.3:c.853G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004727690	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Oct 28, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004727690

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Oct 28, 2023)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004727690.2

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

Description

The ACD c.1120G>A variant is predicted to result in the amino acid substitution p.Glu374Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.022% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-67692233-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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: Feb 15, 2026

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