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NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 2, 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:
RCV002374373.3

Allele description [Variation Report for NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)]

NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)

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.1267G>A (p.Val423Ile)
HGVS:
  • NC_000002.12:g.73426482G>A
  • NG_011690.1:g.45728G>A
  • NM_001378454.1:c.1267G>AMANE SELECT
  • NM_015120.4:c.1270G>A
  • NP_001365383.1:p.Val423Ile
  • NP_055935.4:p.Val424Ile
  • LRG_741t1:c.1270G>A
  • LRG_741:g.45728G>A
  • LRG_741p1:p.Val424Ile
  • NC_000002.11:g.73653610G>A
  • NM_001378454.1:c.1267G>A
Protein change:
V423I
Links:
dbSNP: rs45630557
NCBI 1000 Genomes Browser:
rs45630557
Molecular consequence:
  • NM_001378454.1:c.1267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015120.4:c.1270G>A - 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
SCV002687980Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 2, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Alstrom syndrome (OMIM 203800): a case report and literature review.

Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN.

Orphanet J Rare Dis. 2007 Dec 21;2:49. Review.

PubMed [citation]
PMID:
18154657
PMCID:
PMC2266715

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.

Chen JH, Geberhiwot T, Barrett TG, Paisey R, Semple RK.

Mol Genet Genomic Med. 2017 Jul;5(4):390-404. doi: 10.1002/mgg3.296.

PubMed [citation]
PMID:
28717663
PMCID:
PMC5511801

Details of each submission

From Ambry Genetics, SCV002687980.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024