NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 8, 2016
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:: RCV000487174.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer)]

NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer)

Gene:

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

Variant type:

Indel

Cytogenetic location:

2p13.1

Genomic location:

Preferred name:

NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer)

HGVS:

NC_000002.12:g.73448251_73448252delinsCTAGT
NG_011690.1:g.67499_67500delinsCTAGT
NM_001378454.1:c.1724_1725delinsCTAGTMANE SELECT
NM_015120.4:c.1727_1728delinsCTAGT
NP_001365383.1:p.His575delinsProSer
NP_055935.4:p.His576delinsProSer
LRG_741t1:c.1727_1728delinsCTAGT
LRG_741:g.67499_67500delinsCTAGT
LRG_741p1:p.His576delinsProSer
NC_000002.11:g.73675378_73675379delinsCTAGT
NM_015120.4:c.1727_1728delACinsCTAGT

Links:

dbSNP: rs1064795650

NCBI 1000 Genomes Browser:

rs1064795650

Molecular consequence:

NM_001378454.1:c.1724_1725delinsCTAGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_015120.4:c.1727_1728delinsCTAGT - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571652	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Sep 8, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571652

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Sep 8, 2016)

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, SCV000571652.3

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

Description

The c.1727_1728delACinsCTAGT variant in the ALMS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1727_1728delACinsCTAGT variant results in an in-frame deletion of Histidine 576 and insertion of Proline and Serine, denoted p.His576delinsProSer. The c.1727_1728delACinsCTAGT variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1727_1728delACinsCTAGT as a variant of uncertain significance.

#	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: Jan 7, 2023

ClinVar

Relating variation to medicine