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NM_001378454.1(ALMS1):c.12114+1G>T AND Alstrom syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 7, 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:
RCV000671240.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.12114+1G>T]

NM_001378454.1(ALMS1):c.12114+1G>T

Genes:
ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
LOC126806252:BRD4-independent group 4 enhancer GRCh37_chr2:73828496-73829695 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_001378454.1(ALMS1):c.12114+1G>T
HGVS:
  • NC_000002.12:g.73601437G>T
  • NG_011690.1:g.220685G>T
  • NG_082576.2:g.509G>T
  • NM_001378454.1:c.12114+1G>TMANE SELECT
  • NM_015120.4:c.12114+1G>T
  • LRG_741t1:c.12114+1G>T
  • LRG_741:g.220685G>T
  • NC_000002.11:g.73828564G>T
  • NM_015120.4:c.12117+1G>T
Links:
dbSNP: rs376719320
NCBI 1000 Genomes Browser:
rs376719320
Molecular consequence:
  • NM_001378454.1:c.12114+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_015120.4:c.12114+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000796195Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Dec 7, 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, SCV000796195.1

#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: Jun 10, 2023