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NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs) AND Alstrom syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 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:
RCV000667595.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs)]

NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs)

Gene:
ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs)
HGVS:
  • NC_000002.12:g.73572721del
  • NG_011690.1:g.191969del
  • NM_001378454.1:c.10844delMANE SELECT
  • NM_015120.4:c.10847del
  • NP_001365383.1:p.Pro3615fs
  • NP_055935.4:p.Pro3616fs
  • LRG_741t1:c.10847del
  • LRG_741:g.191969del
  • LRG_741p1:p.Pro3616fs
  • NC_000002.11:g.73799848del
  • NM_015120.4:c.10847delC
Protein change:
P3615fs
Links:
dbSNP: rs1553418513
NCBI 1000 Genomes Browser:
rs1553418513
Molecular consequence:
  • NM_001378454.1:c.10844del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015120.4:c.10847del - 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
SCV000792073Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Jun 21, 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, SCV000792073.1

#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