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NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs) AND Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Apr 10, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002211034.2

Allele description [Variation Report for NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)]

NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)

Gene:
LAMA1:laminin subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18p11.31
Genomic location:
Preferred name:
NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)
HGVS:
  • NC_000018.10:g.6966191dup
  • NG_034251.1:g.156627dup
  • NM_005559.4:c.7009dupMANE SELECT
  • NP_005550.2:p.Ser2337fs
  • NC_000018.9:g.6966190dup
  • NM_005559.3:c.7009dup
  • NM_005559.4:c.7009dupTMANE SELECT
Protein change:
S2337fs
Links:
dbSNP: rs2144018381
NCBI 1000 Genomes Browser:
rs2144018381
Molecular consequence:
  • NM_005559.4:c.7009dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Synonyms:
Poretti-Boltshauser syndrome
Identifiers:
MONDO: MONDO:0014419; MedGen: C4014821; Orphanet: 370022; OMIM: 615960

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002496392Provincial Medical Genetics Program of British Columbia, University of British Columbia
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jan 1, 2022)
maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV005076780Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Pathogenic
(Apr 10, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Provincial Medical Genetics Program of British Columbia, University of British Columbia, SCV002496392.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005076780.1

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

Description

Variant summary: LAMA1 c.7009dupT (p.Ser2337PhefsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251292 control chromosomes. To our knowledge, no occurrence of c.7009dupT in individuals affected with Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1675305). Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Jul 23, 2024