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NM_001378454.1(ALMS1):c.11873-8T>G AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 25, 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:
RCV002280194.2

Allele description [Variation Report for NM_001378454.1(ALMS1):c.11873-8T>G]

NM_001378454.1(ALMS1):c.11873-8T>G

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.11873-8T>G
HGVS:
  • NC_000002.12:g.73601187T>G
  • NG_011690.1:g.220435T>G
  • NM_001378454.1:c.11873-8T>GMANE SELECT
  • NM_015120.4:c.11873-8T>G
  • LRG_741t1:c.11873-8T>G
  • LRG_741:g.220435T>G
  • NC_000002.11:g.73828314T>G
Links:
dbSNP: rs2104195252
NCBI 1000 Genomes Browser:
rs2104195252
Molecular consequence:
  • NM_001378454.1:c.11873-8T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015120.4:c.11873-8T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002568614GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Feb 25, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002568614.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024