NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 24, 2023
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:: RCV003246758.2

Allele description [Variation Report for NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs)]

NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs)

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.1364_1367del (p.Pro455fs)

HGVS:

NC_000016.10:g.67657617_67657620del
NG_042874.1:g.8197_8200del
NG_054728.1:g.17699_17702del
NM_001082486.2:c.1364_1367delMANE SELECT
NM_022914.3:c.1355_1358del
NP_001075955.2:p.Pro455fs
NP_075065.3:p.Pro452fs
LRG_1237t1:c.1364_1367del
LRG_1237:g.8197_8200del
LRG_1237p1:p.Pro455fs
NC_000016.9:g.67691519_67691522del
NC_000016.9:g.67691520_67691523del
NM_001082486.1:c.1622_1625del
NM_001082486.1:c.1622_1625delCAAC

Protein change:

P452fs

Links:

dbSNP: rs772312742

NCBI 1000 Genomes Browser:

rs772312742

Molecular consequence:

NM_001082486.2:c.1364_1367del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022914.3:c.1355_1358del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003942509	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003942509

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 24, 2023)

germline

clinical testing

Citation Link

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 Ambry Genetics, SCV003942509.2

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

Description

Not expected to trigger nonsense-mediated mRNA decay Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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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Relating variation to medicine