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NM_001378454.1(ALMS1):c.10402G>T (p.Glu3468Ter) AND Alstrom syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 17, 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:
RCV002309735.2

Allele description [Variation Report for NM_001378454.1(ALMS1):c.10402G>T (p.Glu3468Ter)]

NM_001378454.1(ALMS1):c.10402G>T (p.Glu3468Ter)

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.10402G>T (p.Glu3468Ter)
HGVS:
  • NC_000002.12:g.73572279G>T
  • NG_011690.1:g.191527G>T
  • NM_001378454.1:c.10402G>TMANE SELECT
  • NM_015120.4:c.10405G>T
  • NP_001365383.1:p.Glu3468Ter
  • NP_055935.3:p.Glu3469Ter
  • NP_055935.4:p.Glu3469Ter
  • LRG_741t1:c.10405G>T
  • LRG_741:g.191527G>T
  • LRG_741p1:p.Glu3469Ter
  • NC_000002.11:g.73799406G>T
  • NM_015120.3:c.10405G>T
Protein change:
E3468*
Molecular consequence:
  • NM_001378454.1:c.10402G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015120.4:c.10405G>T - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002603614Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Feb 17, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603614.2

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

Description

NM_015120.4(ALMS1):c.10405G>T(E3469*) is expected to be pathogenic in the context of Alstrom syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ALMS1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022