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NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs) AND Alstrom syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 26, 2017
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:
RCV000665275.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs)]

NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs)

Gene:
ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs)
HGVS:
  • NC_000002.12:g.73452154dup
  • NG_011690.1:g.71402dup
  • NM_001378454.1:c.5627dupMANE SELECT
  • NM_015120.4:c.5630dup
  • NP_001365383.1:p.Gly1877fs
  • NP_055935.4:p.Gly1878fs
  • LRG_741t1:c.5630dup
  • LRG_741:g.71402dup
  • LRG_741p1:p.Gly1878fs
  • NC_000002.11:g.73679281dup
  • NM_015120.4:c.5630dupT
Protein change:
G1877fs
Links:
dbSNP: rs1553404109
NCBI 1000 Genomes Browser:
rs1553404109
Molecular consequence:
  • NM_001378454.1:c.5627dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015120.4:c.5630dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Alstrom syndrome (ALMS)
Synonyms:
Alstrom's syndrome
Identifiers:
MONDO: MONDO:0008763; MedGen: C0268425; Orphanet: 64; OMIM: 203800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000789367Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Pathogenic
(Jan 26, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Counsyl, SCV000789367.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022