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NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 17, 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:
RCV003294660.2

Allele description [Variation Report for NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)]

NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)

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.8374del (p.Arg2792fs)
HGVS:
  • NC_000002.12:g.73490333del
  • NG_011690.1:g.109581del
  • NM_001378454.1:c.8374delMANE SELECT
  • NM_015120.4:c.8377del
  • NP_001365383.1:p.Arg2792fs
  • NP_055935.3:p.Arg2793Glufs
  • NP_055935.4:p.Arg2793fs
  • LRG_741t1:c.8377del
  • LRG_741:g.109581del
  • LRG_741p1:p.Arg2793fs
  • NC_000002.11:g.73717460del
  • NM_015120.3:c.8377delA
  • NM_015120.4:c.8377delA
Protein change:
R2792fs
Molecular consequence:
  • NM_001378454.1:c.8374del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015120.4:c.8377del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003997961Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 17, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003997961.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.8377delA variant, located in coding exon 10 of the ALMS1 gene, results from a deletion of one nucleotide at nucleotide position 8377, causing a translational frameshift with a predicted alternate stop codon (p.R2793Efs*21). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024