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NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs) AND Alstrom syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 12, 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:
RCV000668201.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs)]

NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs)

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.7998_8013dup (p.Phe2672fs)
HGVS:
  • NC_000002.12:g.73489957_73489972dup
  • NG_011690.1:g.109205_109220dup
  • NM_001378454.1:c.7998_8013dupMANE SELECT
  • NM_015120.4:c.8001_8016dup
  • NP_001365383.1:p.Phe2672fs
  • NP_055935.4:p.Phe2673fs
  • LRG_741t1:c.8001_8016dup
  • LRG_741:g.109205_109220dup
  • LRG_741p1:p.Phe2673fs
  • NC_000002.11:g.73717084_73717099dup
Protein change:
F2672fs
Links:
dbSNP: rs1553409656
NCBI 1000 Genomes Browser:
rs1553409656
Molecular consequence:
  • NM_001378454.1:c.7998_8013dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015120.4:c.8001_8016dup - 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
SCV000792763Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Jul 12, 2017) 		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 Counsyl, SCV000792763.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022