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NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 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:
RCV002325339.2

Allele description [Variation Report for NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His)]

NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His)

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.3255G>C (p.Gln1085His)
HGVS:
  • NC_000002.12:g.73449782G>C
  • NG_011690.1:g.69030G>C
  • NM_001378454.1:c.3255G>CMANE SELECT
  • NM_015120.4:c.3258G>C
  • NP_001365383.1:p.Gln1085His
  • NP_055935.4:p.Gln1086His
  • LRG_741t1:c.3258G>C
  • LRG_741:g.69030G>C
  • LRG_741p1:p.Gln1086His
  • NC_000002.11:g.73676909G>C
  • NM_001378454.1:c.3255G>C
Protein change:
Q1085H
Links:
dbSNP: rs181507134
NCBI 1000 Genomes Browser:
rs181507134
Molecular consequence:
  • NM_001378454.1:c.3255G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015120.4:c.3258G>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
SCV002611026Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 26, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.

Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yin Y, Guo X, Wang J, Zhang Q.

Clin Genet. 2016 Apr;89(4):442-447. doi: 10.1111/cge.12617. Epub 2015 Jun 22.

PubMed [citation]
PMID:
26010121

Details of each submission

From Ambry Genetics, SCV002611026.2

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

Description

The p.Q1086H variant (also known as c.3258G>C), located in coding exon 8 of the ALMS1 gene, results from a G to C substitution at nucleotide position 3258. The glutamine at codon 1086 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a retinal degeneration cohort (Xu Y et al. Clin Genet, 2016 Apr;89:442-447). This amino acid position is well 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: Sep 29, 2024