NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 19, 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:: RCV003156367.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs)]

NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs)

Gene:

ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p13.1

Genomic location:

Preferred name:

NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs)

HGVS:

NC_000002.12:g.73490133_73490143del
NG_011690.1:g.109381_109391del
NM_001378454.1:c.8174_8184delMANE SELECT
NM_015120.4:c.8177_8187del
NP_001365383.1:p.Cys2725fs
NP_055935.4:p.Cys2726fs
LRG_741t1:c.8177_8187del
LRG_741:g.109381_109391del
LRG_741p1:p.Cys2726fs
NC_000002.11:g.73717257_73717267del
NC_000002.11:g.73717260_73717270del

Protein change:

C2725fs

Links:

dbSNP: rs2103890894

NCBI 1000 Genomes Browser:

rs2103890894

Molecular consequence:

NM_001378454.1:c.8174_8184del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015120.4:c.8177_8187del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003845443	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 19, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003845443

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 19, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003845443.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17594715)

#	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: Sep 29, 2024

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