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NM_001378454.1(ALMS1):c.8182A>C (p.Asn2728His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2019
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:
RCV002427821.2

Allele description [Variation Report for NM_001378454.1(ALMS1):c.8182A>C (p.Asn2728His)]

NM_001378454.1(ALMS1):c.8182A>C (p.Asn2728His)

Gene:
ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_001378454.1(ALMS1):c.8182A>C (p.Asn2728His)
HGVS:
  • NC_000002.12:g.73490141A>C
  • NG_011690.1:g.109389A>C
  • NM_001378454.1:c.8182A>CMANE SELECT
  • NM_015120.4:c.8185A>C
  • NP_001365383.1:p.Asn2728His
  • NP_055935.3:p.Asn2729His
  • NP_055935.4:p.Asn2729His
  • LRG_741t1:c.8185A>C
  • LRG_741:g.109389A>C
  • LRG_741p1:p.Asn2729His
  • NC_000002.11:g.73717268A>C
  • NM_015120.3:c.8185A>C
Protein change:
N2728H
Molecular consequence:
  • NM_001378454.1:c.8182A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015120.4:c.8185A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002680077Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 1, 2019) 		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, SCV002680077.2

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

Description

The p.N2729H variant (also known as c.8185A>C), located in coding exon 10 of the ALMS1 gene, results from an A to C substitution at nucleotide position 8185. The asparagine at codon 2729 is replaced by histidine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024