NM_001082486.2(ACD):c.488A>G (p.Asn163Ser) AND Long telomere syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 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:: RCV004564545.1

Allele description [Variation Report for NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)]

NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)

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.488A>G (p.Asn163Ser)

HGVS:

NC_000016.10:g.67659234T>C
NG_042874.1:g.6582A>G
NG_054728.1:g.19316T>C
NM_001082486.2:c.488A>GMANE SELECT
NM_022914.3:c.479A>G
NP_001075955.2:p.Asn163Ser
NP_075065.3:p.Asn160Ser
LRG_1237t1:c.488A>G
LRG_1237:g.6582A>G
LRG_1237p1:p.Asn163Ser
NC_000016.9:g.67693137T>C
NM_001082486.1:c.746A>G

Protein change:

N160S

Links:

dbSNP: rs370512338

Molecular consequence:

NM_001082486.2:c.488A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022914.3:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Long telomere syndrome
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005049652	The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine	no assertion criteria provided	Pathogenic (Apr 1, 2023)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005049652

The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine

no assertion criteria provided

Pathogenic
(Apr 1, 2023)

germline

research

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	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Telomere-lengthening germline variants predispose to a syndromic papillary thyroid cancer subtype.

DeBoy EA, Nicosia AM, Liyanarachchi S, Iyer SS, Shah MH, Ringel MD, Brock P, Armanios M.

Am J Hum Genet. 2024 Jun 6;111(6):1114-1124. doi: 10.1016/j.ajhg.2024.04.006. Epub 2024 Apr 29.

PubMed [citation]

PMID:: 38688277
PMCID:: PMC11179366

Details of each submission

From The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine, SCV005049652.1

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

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

Last Updated: Mar 7, 2026

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